Canonical Allele Identifier: CA2617968743

Gene: SOX5

Linked Data

• gnomAD v4: 12-23949660-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.23949660A>C , CM000674.2:g.23949660A>C	GRCh38
NC_000012.11:g.24102594A>C , CM000674.1:g.24102594A>C	GRCh37
NC_000012.10:g.23993861A>C	NCBI36
NG_029612.1:g.617787T>G
NG_029612.2:g.617787T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704298.1:c.-1-53636T>G	ENSP00000515822.1:n.-1-53636T>G
ENST00000704299.1:c.-119-5372T>G	ENSP00000515823.1:n.-119-5372T>G
ENST00000704300.1:c.-1-53636T>G	ENSP00000515824.1:n.-1-53636T>G
ENST00000446891.7:c.-1-53636T>G	ENSP00000494627.1:n.-1-53636T>G
ENST00000451604.7:c.-59T>G MANE Select	ENSP00000398273.2:n.-59T>G
ENST00000536729.2:c.-1-53636T>G	ENSP00000496161.1:n.-1-53636T>G
ENST00000646273.1:c.-1-53636T>G	ENSP00000493866.1:n.-1-53636T>G
ENST00000659413.1:c.-1-53636T>G	ENSP00000499309.1:n.-1-53636T>G
ENST00000367206.7:c.8+1209T>G	ENSP00000356174.3:n.8+1209T>G
ENST00000381381.6:c.-98T>G	ENSP00000370788.2:n.-98T>G
ENST00000441133.2:c.-59T>G	ENSP00000393240.2:n.-59T>G
ENST00000451604.6:c.-59T>G	ENSP00000398273.2:n.-59T>G
ENST00000541847.5:c.8+1209T>G	ENSP00000442119.1:n.8+1209T>G
ENST00000545921.5:c.8+1209T>G	ENSP00000443520.1:n.8+1209T>G
NM_001261414.1:c.-1-53636T>G	NP_001248343.1:n.-1-53636T>G
NM_001261415.1:c.8+1209T>G	NP_001248344.1:n.8+1209T>G
NM_006940.4:c.-59T>G	NP_008871.3:n.-59T>G
NM_152989.3:c.-1-53636T>G	NP_694534.1:n.-1-53636T>G
XM_006719149.2:c.-1-53636T>G	XP_006719212.1:n.-1-53636T>G
XM_011520831.1:c.-59T>G	XP_011519133.1:n.-59T>G
XM_011520832.1:c.-59T>G	XP_011519134.1:n.-59T>G
XM_011520833.1:c.8+1209T>G	XP_011519135.1:n.8+1209T>G
XM_011520834.1:c.-1-53636T>G	XP_011519136.1:n.-1-53636T>G
XM_011520835.1:c.-1-53636T>G	XP_011519137.1:n.-1-53636T>G
XM_011520836.1:c.1-53637T>G	XP_011519138.1:n.1-53637T>G
XM_011520838.1:c.-59T>G	XP_011519140.1:n.-59T>G
XM_011520839.1:c.-1-53636T>G	XP_011519141.1:n.-1-53636T>G
NM_001261414.2:c.-1-53636T>G	NP_001248343.1:n.-1-53636T>G
NM_001261415.2:c.8+1209T>G	NP_001248344.1:n.8+1209T>G
NM_001330785.1:c.-59T>G	NP_001317714.1:n.-59T>G
NM_006940.5:c.-59T>G	NP_008871.3:n.-59T>G
NM_152989.4:c.-1-53636T>G	NP_694534.1:n.-1-53636T>G
XM_011520832.2:c.-59T>G	XP_011519134.1:n.-59T>G
XM_011520833.2:c.8+1209T>G	XP_011519135.1:n.8+1209T>G
XM_011520834.2:c.-1-53636T>G	XP_011519136.1:n.-1-53636T>G
XM_011520835.2:c.-1-53636T>G	XP_011519137.1:n.-1-53636T>G
XM_011520838.2:c.-59T>G	XP_011519140.1:n.-59T>G
XM_017019888.1:c.134T>G	XP_016875377.1:p.Val45Gly
XM_017019889.1:c.134T>G	XP_016875378.1:p.Val45Gly
XM_017019890.1:c.-1-53636T>G	XP_016875379.1:n.-1-53636T>G
XM_017019891.1:c.-1-53636T>G	XP_016875380.1:n.-1-53636T>G
XM_017019892.1:c.-1-53636T>G	XP_016875381.1:n.-1-53636T>G
XM_017019893.1:c.-1-53636T>G	XP_016875382.1:n.-1-53636T>G
XM_017019894.1:c.-1-53636T>G	XP_016875383.1:n.-1-53636T>G
XM_017019895.1:c.-2+733T>G	XP_016875384.1:n.-2+733T>G
XM_017019896.1:c.-1-53636T>G	XP_016875385.1:n.-1-53636T>G
XM_017019897.1:c.-1-53636T>G	XP_016875386.1:n.-1-53636T>G
XM_017019898.1:c.-1-53636T>G	XP_016875387.1:n.-1-53636T>G
XM_017019899.1:c.-1-53636T>G	XP_016875388.1:n.-1-53636T>G
XM_017019900.1:c.-2+733T>G	XP_016875389.1:n.-2+733T>G
XM_024449150.1:c.-1-53636T>G	XP_024304918.1:n.-1-53636T>G
XM_024449151.1:c.-1-53636T>G	XP_024304919.1:n.-1-53636T>G
XM_024449152.1:c.-1-53636T>G	XP_024304920.1:n.-1-53636T>G
XM_024449153.1:c.-1-53636T>G	XP_024304921.1:n.-1-53636T>G
XM_024449154.1:c.-1-53636T>G	XP_024304922.1:n.-1-53636T>G
XM_024449155.1:c.-1-53636T>G	XP_024304923.1:n.-1-53636T>G
XM_024449157.1:c.-1-53636T>G	XP_024304925.1:n.-1-53636T>G
XM_024449158.1:c.-1-53636T>G	XP_024304926.1:n.-1-53636T>G
XM_024449159.1:c.-1-53636T>G	XP_024304927.1:n.-1-53636T>G
XM_024449160.1:c.-1-53636T>G	XP_024304928.1:n.-1-53636T>G
XM_024449161.1:c.-1-53636T>G	XP_024304929.1:n.-1-53636T>G
XM_024449163.1:c.-1-53636T>G	XP_024304931.1:n.-1-53636T>G
XM_024449164.1:c.-1-53636T>G	XP_024304932.1:n.-1-53636T>G
XM_024449165.1:c.-1-53636T>G	XP_024304933.1:n.-1-53636T>G
NM_006940.6:c.-59T>G MANE Select	NP_008871.3:n.-59T>G
NM_001261414.3:c.-1-53636T>G	NP_001248343.1:n.-1-53636T>G
NM_001330785.2:c.-59T>G	NP_001317714.1:n.-59T>G
NM_152989.5:c.-1-53636T>G	NP_694534.1:n.-1-53636T>G
NM_001261415.3:c.8+1209T>G	NP_001248344.1:n.8+1209T>G