Canonical Allele Identifier: CA1337610884

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344451A= , CM000664.2:g.237344451A=	GRCh38
NC_000002.11:g.238253094A= , CM000664.1:g.238253094A=	GRCh37
NC_000002.10:g.237917833A=	NCBI36
NG_008676.1:g.74757T= , LRG_473:g.74757T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.212T=
ENST00000353578.9:c.6949T=	ENSP00000315873.4:p.Ser2317=
ENST00000295550.9:c.7567T= MANE Select	ENSP00000295550.4:p.Ser2523=
ENST00000295550.8:c.7567T=	ENSP00000295550.4:p.Ser2523=
ENST00000347401.7:c.5743T=	ENSP00000315609.4:p.Ser1915=
ENST00000353578.8:c.6949T=	ENSP00000315873.4:p.Ser2317=
ENST00000409809.5:c.6949T=	ENSP00000386844.1:p.Ser2317=
ENST00000472056.5:c.5746T=	ENSP00000418285.1:p.Ser1916=
ENST00000491769.1:n.1821T=
NM_004369.3:c.7567T= , LRG_473t1:c.7567T=	NP_004360.2:p.Ser2523=
NM_057166.4:c.5746T=	NP_476507.3:p.Ser1916=
NM_057167.3:c.6949T=	NP_476508.2:p.Ser2317=
XM_005246065.1:c.6967T=	XP_005246122.1:p.Ser2323=
XM_005246066.1:c.6346T=	XP_005246123.1:p.Ser2116=
XM_006712253.1:c.7066T=	XP_006712316.1:p.Ser2356=
XM_011510574.1:c.7564T=	XP_011508876.1:p.Ser2522=
XM_011510575.1:c.5161T=	XP_011508877.1:p.Ser1721=
XM_017003304.1:c.5161T=	XP_016858793.1:p.Ser1721=
XM_024452684.1:c.6346T=	XP_024308452.1:p.Ser2116=
NM_004369.4:c.7567T= MANE Select	NP_004360.2:p.Ser2523=
NM_057166.5:c.5746T=	NP_476507.3:p.Ser1916=
NM_057167.4:c.6949T=	NP_476508.2:p.Ser2317=