Canonical Allele Identifier: CA384319639

Gene: SOX5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.23536659C>T , CM000674.2:g.23536659C>T	GRCh38
NC_000012.11:g.23689593C>T , CM000674.1:g.23689593C>T	GRCh37
NC_000012.10:g.23580860C>T	NCBI36
NG_029612.1:g.1030788G>A
NG_029612.2:g.1030788G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704296.1:c.534G>A	ENSP00000515820.1:p.Trp178Ter
ENST00000704297.1:c.*451G>A	ENSP00000515821.1:n.*451G>A
ENST00000704298.1:c.*431G>A	ENSP00000515822.1:n.*431G>A
ENST00000704299.1:c.1638G>A	ENSP00000515823.1:p.Trp546Ter
ENST00000451604.7:c.1782G>A MANE Select	ENSP00000398273.2:p.Trp594Ter
ENST00000646273.1:c.1419G>A	ENSP00000493866.1:p.Trp473Ter
ENST00000367206.7:c.*113G>A	ENSP00000356174.3:n.*113G>A
ENST00000381381.6:c.1419G>A	ENSP00000370788.2:p.Trp473Ter
ENST00000396007.6:c.624G>A	ENSP00000379328.2:p.Trp208Ter
ENST00000451604.6:c.1782G>A	ENSP00000398273.2:p.Trp594Ter
ENST00000537393.5:c.1677G>A	ENSP00000439832.1:p.Trp559Ter
ENST00000541536.5:c.1419G>A	ENSP00000441973.1:p.Trp473Ter
ENST00000545921.5:c.1752G>A	ENSP00000443520.1:p.Trp584Ter
ENST00000546136.5:c.1743G>A	ENSP00000437487.1:p.Trp581Ter
NM_001261414.1:c.1419G>A	NP_001248343.1:p.Trp473Ter
NM_001261415.1:c.1752G>A	NP_001248344.1:p.Trp584Ter
NM_006940.4:c.1782G>A	NP_008871.3:p.Trp594Ter
NM_152989.3:c.1743G>A	NP_694534.1:p.Trp581Ter
NM_178010.2:c.624G>A	NP_821078.1:p.Trp208Ter
XM_006719149.2:c.1743G>A	XP_006719212.1:p.Trp581Ter
XM_011520831.1:c.1677G>A	XP_011519133.1:p.Trp559Ter
XM_011520832.1:c.1785G>A	XP_011519134.1:p.Trp595Ter
XM_011520833.1:c.1755G>A	XP_011519135.1:p.Trp585Ter
XM_011520834.1:c.1746G>A	XP_011519136.1:p.Trp582Ter
XM_011520835.1:c.1746G>A	XP_011519137.1:p.Trp582Ter
XM_011520836.1:c.1746G>A	XP_011519138.1:p.Trp582Ter
XM_011520837.1:c.1746G>A	XP_011519139.1:p.Trp582Ter
XM_011520838.1:c.1680G>A	XP_011519140.1:p.Trp560Ter
XM_011520839.1:c.1638G>A	XP_011519141.1:p.Trp546Ter
XM_011520840.1:c.948G>A	XP_011519142.1:p.Trp316Ter
XM_011520841.1:c.948G>A	XP_011519143.1:p.Trp316Ter
XM_011520842.1:c.738G>A	XP_011519144.1:p.Trp246Ter
XM_011520843.1:c.948G>A	XP_011519145.1:p.Trp316Ter
XM_011520844.1:c.534G>A	XP_011519146.1:p.Trp178Ter
XM_011520845.1:c.534G>A	XP_011519147.1:p.Trp178Ter
XM_011520846.1:c.534G>A	XP_011519148.1:p.Trp178Ter
NM_001261414.2:c.1419G>A	NP_001248343.1:p.Trp473Ter
NM_001261415.2:c.1752G>A	NP_001248344.1:p.Trp584Ter
NM_001330785.1:c.1677G>A	NP_001317714.1:p.Trp559Ter
NM_006940.5:c.1782G>A	NP_008871.3:p.Trp594Ter
NM_152989.4:c.1743G>A	NP_694534.1:p.Trp581Ter
NM_178010.3:c.624G>A	NP_821078.1:p.Trp208Ter
XM_011520832.2:c.1785G>A	XP_011519134.1:p.Trp595Ter
XM_011520833.2:c.1755G>A	XP_011519135.1:p.Trp585Ter
XM_011520834.2:c.1746G>A	XP_011519136.1:p.Trp582Ter
XM_011520835.2:c.1746G>A	XP_011519137.1:p.Trp582Ter
XM_011520837.2:c.1746G>A	XP_011519139.1:p.Trp582Ter
XM_011520838.2:c.1680G>A	XP_011519140.1:p.Trp560Ter
XM_011520842.2:c.738G>A	XP_011519144.1:p.Trp246Ter
XM_017019888.1:c.1872G>A	XP_016875377.1:p.Trp624Ter
XM_017019889.1:c.1869G>A	XP_016875378.1:p.Trp623Ter
XM_017019890.1:c.1746G>A	XP_016875379.1:p.Trp582Ter
XM_017019891.1:c.1746G>A	XP_016875380.1:p.Trp582Ter
XM_017019892.1:c.1746G>A	XP_016875381.1:p.Trp582Ter
XM_017019893.1:c.1746G>A	XP_016875382.1:p.Trp582Ter
XM_017019894.1:c.1746G>A	XP_016875383.1:p.Trp582Ter
XM_017019895.1:c.1746G>A	XP_016875384.1:p.Trp582Ter
XM_017019896.1:c.1743G>A	XP_016875385.1:p.Trp581Ter
XM_017019897.1:c.1641G>A	XP_016875386.1:p.Trp547Ter
XM_017019898.1:c.1638G>A	XP_016875387.1:p.Trp546Ter
XM_017019899.1:c.1638G>A	XP_016875388.1:p.Trp546Ter
XM_017019900.1:c.1638G>A	XP_016875389.1:p.Trp546Ter
XM_017019901.1:c.1638G>A	XP_016875390.1:p.Trp546Ter
XM_024449150.1:c.1746G>A	XP_024304918.1:p.Trp582Ter
XM_024449151.1:c.1746G>A	XP_024304919.1:p.Trp582Ter
XM_024449152.1:c.1746G>A	XP_024304920.1:p.Trp582Ter
XM_024449153.1:c.1746G>A	XP_024304921.1:p.Trp582Ter
XM_024449154.1:c.1746G>A	XP_024304922.1:p.Trp582Ter
XM_024449155.1:c.1746G>A	XP_024304923.1:p.Trp582Ter
XM_024449157.1:c.1746G>A	XP_024304925.1:p.Trp582Ter
XM_024449158.1:c.1746G>A	XP_024304926.1:p.Trp582Ter
XM_024449159.1:c.1746G>A	XP_024304927.1:p.Trp582Ter
XM_024449160.1:c.1743G>A	XP_024304928.1:p.Trp581Ter
XM_024449161.1:c.1743G>A	XP_024304929.1:p.Trp581Ter
XM_024449163.1:c.1641G>A	XP_024304931.1:p.Trp547Ter
XM_024449164.1:c.1641G>A	XP_024304932.1:p.Trp547Ter
XM_024449165.1:c.1641G>A	XP_024304933.1:p.Trp547Ter
NM_006940.6:c.1782G>A MANE Select	NP_008871.3:p.Trp594Ter
NM_001261414.3:c.1419G>A	NP_001248343.1:p.Trp473Ter
NM_001330785.2:c.1677G>A	NP_001317714.1:p.Trp559Ter
NM_152989.5:c.1743G>A	NP_694534.1:p.Trp581Ter
NM_178010.4:c.624G>A	NP_821078.1:p.Trp208Ter
NM_001261415.3:c.1752G>A	NP_001248344.1:p.Trp584Ter