Canonical Allele Identifier: CA384319441

Gene: SOX5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.23536577C>T , CM000674.2:g.23536577C>T	GRCh38
NC_000012.11:g.23689511C>T , CM000674.1:g.23689511C>T	GRCh37
NC_000012.10:g.23580778C>T	NCBI36
NG_029612.1:g.1030870G>A
NG_029612.2:g.1030870G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704296.1:c.616G>A	ENSP00000515820.1:p.Asp206Asn
ENST00000704297.1:c.*533G>A	ENSP00000515821.1:n.*533G>A
ENST00000704298.1:c.*513G>A	ENSP00000515822.1:n.*513G>A
ENST00000704299.1:c.1720G>A	ENSP00000515823.1:p.Asp574Asn
ENST00000451604.7:c.1864G>A MANE Select	ENSP00000398273.2:p.Asp622Asn
ENST00000646273.1:c.1501G>A	ENSP00000493866.1:p.Asp501Asn
ENST00000367206.7:c.*195G>A	ENSP00000356174.3:n.*195G>A
ENST00000381381.6:c.1501G>A	ENSP00000370788.2:p.Asp501Asn
ENST00000396007.6:c.706G>A	ENSP00000379328.2:p.Asp236Asn
ENST00000451604.6:c.1864G>A	ENSP00000398273.2:p.Asp622Asn
ENST00000537393.5:c.1759G>A	ENSP00000439832.1:p.Asp587Asn
ENST00000541536.5:c.1501G>A	ENSP00000441973.1:p.Asp501Asn
ENST00000545921.5:c.1834G>A	ENSP00000443520.1:p.Asp612Asn
ENST00000546136.5:c.1825G>A	ENSP00000437487.1:p.Asp609Asn
NM_001261414.1:c.1501G>A	NP_001248343.1:p.Asp501Asn
NM_001261415.1:c.1834G>A	NP_001248344.1:p.Asp612Asn
NM_006940.4:c.1864G>A	NP_008871.3:p.Asp622Asn
NM_152989.3:c.1825G>A	NP_694534.1:p.Asp609Asn
NM_178010.2:c.706G>A	NP_821078.1:p.Asp236Asn
XM_006719149.2:c.1825G>A	XP_006719212.1:p.Asp609Asn
XM_011520831.1:c.1759G>A	XP_011519133.1:p.Asp587Asn
XM_011520832.1:c.1867G>A	XP_011519134.1:p.Asp623Asn
XM_011520833.1:c.1837G>A	XP_011519135.1:p.Asp613Asn
XM_011520834.1:c.1828G>A	XP_011519136.1:p.Asp610Asn
XM_011520835.1:c.1828G>A	XP_011519137.1:p.Asp610Asn
XM_011520836.1:c.1828G>A	XP_011519138.1:p.Asp610Asn
XM_011520837.1:c.1828G>A	XP_011519139.1:p.Asp610Asn
XM_011520838.1:c.1762G>A	XP_011519140.1:p.Asp588Asn
XM_011520839.1:c.1720G>A	XP_011519141.1:p.Asp574Asn
XM_011520840.1:c.1030G>A	XP_011519142.1:p.Asp344Asn
XM_011520841.1:c.1030G>A	XP_011519143.1:p.Asp344Asn
XM_011520842.1:c.820G>A	XP_011519144.1:p.Asp274Asn
XM_011520843.1:c.1030G>A	XP_011519145.1:p.Asp344Asn
XM_011520844.1:c.616G>A	XP_011519146.1:p.Asp206Asn
XM_011520845.1:c.616G>A	XP_011519147.1:p.Asp206Asn
XM_011520846.1:c.616G>A	XP_011519148.1:p.Asp206Asn
NM_001261414.2:c.1501G>A	NP_001248343.1:p.Asp501Asn
NM_001261415.2:c.1834G>A	NP_001248344.1:p.Asp612Asn
NM_001330785.1:c.1759G>A	NP_001317714.1:p.Asp587Asn
NM_006940.5:c.1864G>A	NP_008871.3:p.Asp622Asn
NM_152989.4:c.1825G>A	NP_694534.1:p.Asp609Asn
NM_178010.3:c.706G>A	NP_821078.1:p.Asp236Asn
XM_011520832.2:c.1867G>A	XP_011519134.1:p.Asp623Asn
XM_011520833.2:c.1837G>A	XP_011519135.1:p.Asp613Asn
XM_011520834.2:c.1828G>A	XP_011519136.1:p.Asp610Asn
XM_011520835.2:c.1828G>A	XP_011519137.1:p.Asp610Asn
XM_011520837.2:c.1828G>A	XP_011519139.1:p.Asp610Asn
XM_011520838.2:c.1762G>A	XP_011519140.1:p.Asp588Asn
XM_011520842.2:c.820G>A	XP_011519144.1:p.Asp274Asn
XM_017019888.1:c.1954G>A	XP_016875377.1:p.Asp652Asn
XM_017019889.1:c.1951G>A	XP_016875378.1:p.Asp651Asn
XM_017019890.1:c.1828G>A	XP_016875379.1:p.Asp610Asn
XM_017019891.1:c.1828G>A	XP_016875380.1:p.Asp610Asn
XM_017019892.1:c.1828G>A	XP_016875381.1:p.Asp610Asn
XM_017019893.1:c.1828G>A	XP_016875382.1:p.Asp610Asn
XM_017019894.1:c.1828G>A	XP_016875383.1:p.Asp610Asn
XM_017019895.1:c.1828G>A	XP_016875384.1:p.Asp610Asn
XM_017019896.1:c.1825G>A	XP_016875385.1:p.Asp609Asn
XM_017019897.1:c.1723G>A	XP_016875386.1:p.Asp575Asn
XM_017019898.1:c.1720G>A	XP_016875387.1:p.Asp574Asn
XM_017019899.1:c.1720G>A	XP_016875388.1:p.Asp574Asn
XM_017019900.1:c.1720G>A	XP_016875389.1:p.Asp574Asn
XM_017019901.1:c.1720G>A	XP_016875390.1:p.Asp574Asn
XM_024449150.1:c.1828G>A	XP_024304918.1:p.Asp610Asn
XM_024449151.1:c.1828G>A	XP_024304919.1:p.Asp610Asn
XM_024449152.1:c.1828G>A	XP_024304920.1:p.Asp610Asn
XM_024449153.1:c.1828G>A	XP_024304921.1:p.Asp610Asn
XM_024449154.1:c.1828G>A	XP_024304922.1:p.Asp610Asn
XM_024449155.1:c.1828G>A	XP_024304923.1:p.Asp610Asn
XM_024449157.1:c.1828G>A	XP_024304925.1:p.Asp610Asn
XM_024449158.1:c.1828G>A	XP_024304926.1:p.Asp610Asn
XM_024449159.1:c.1828G>A	XP_024304927.1:p.Asp610Asn
XM_024449160.1:c.1825G>A	XP_024304928.1:p.Asp609Asn
XM_024449161.1:c.1825G>A	XP_024304929.1:p.Asp609Asn
XM_024449163.1:c.1723G>A	XP_024304931.1:p.Asp575Asn
XM_024449164.1:c.1723G>A	XP_024304932.1:p.Asp575Asn
XM_024449165.1:c.1723G>A	XP_024304933.1:p.Asp575Asn
NM_006940.6:c.1864G>A MANE Select	NP_008871.3:p.Asp622Asn
NM_001261414.3:c.1501G>A	NP_001248343.1:p.Asp501Asn
NM_001330785.2:c.1759G>A	NP_001317714.1:p.Asp587Asn
NM_152989.5:c.1825G>A	NP_694534.1:p.Asp609Asn
NM_178010.4:c.706G>A	NP_821078.1:p.Asp236Asn
NM_001261415.3:c.1834G>A	NP_001248344.1:p.Asp612Asn