Canonical Allele Identifier: CA351201930

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238253069A>T (hg19) ; chr2:g.237344426A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344426A>T , CM000664.2:g.237344426A>T	GRCh38
NC_000002.11:g.238253069A>T , CM000664.1:g.238253069A>T	GRCh37
NC_000002.10:g.237917808A>T	NCBI36
NG_008676.1:g.74782T>A , LRG_473:g.74782T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.237T>A
ENST00000353578.9:c.6974T>A	ENSP00000315873.4:p.Leu2325His
ENST00000295550.9:c.7592T>A MANE Select	ENSP00000295550.4:p.Leu2531His
ENST00000295550.8:c.7592T>A	ENSP00000295550.4:p.Leu2531His
ENST00000347401.7:c.5768T>A	ENSP00000315609.4:p.Leu1923His
ENST00000353578.8:c.6974T>A	ENSP00000315873.4:p.Leu2325His
ENST00000409809.5:c.6974T>A	ENSP00000386844.1:p.Leu2325His
ENST00000472056.5:c.5771T>A	ENSP00000418285.1:p.Leu1924His
ENST00000491769.1:n.1846T>A
NM_004369.3:c.7592T>A , LRG_473t1:c.7592T>A	NP_004360.2:p.Leu2531His
NM_057166.4:c.5771T>A	NP_476507.3:p.Leu1924His
NM_057167.3:c.6974T>A	NP_476508.2:p.Leu2325His
XM_005246065.1:c.6992T>A	XP_005246122.1:p.Leu2331His
XM_005246066.1:c.6371T>A	XP_005246123.1:p.Leu2124His
XM_006712253.1:c.7091T>A	XP_006712316.1:p.Leu2364His
XM_011510574.1:c.7589T>A	XP_011508876.1:p.Leu2530His
XM_011510575.1:c.5186T>A	XP_011508877.1:p.Leu1729His
XM_017003304.1:c.5186T>A	XP_016858793.1:p.Leu1729His
XM_024452684.1:c.6371T>A	XP_024308452.1:p.Leu2124His
NM_004369.4:c.7592T>A MANE Select	NP_004360.2:p.Leu2531His
NM_057166.5:c.5771T>A	NP_476507.3:p.Leu1924His
NM_057167.4:c.6974T>A	NP_476508.2:p.Leu2325His