Canonical Allele Identifier: CA1337610906

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344500G= , CM000664.2:g.237344500G=	GRCh38
NC_000002.11:g.238253143G= , CM000664.1:g.238253143G=	GRCh37
NC_000002.10:g.237917882G=	NCBI36
NG_008676.1:g.74708C= , LRG_473:g.74708C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.163C=
ENST00000353578.9:c.6900C=	ENSP00000315873.4:p.Phe2300=
ENST00000295550.9:c.7518C= MANE Select	ENSP00000295550.4:p.Phe2506=
ENST00000295550.8:c.7518C=	ENSP00000295550.4:p.Phe2506=
ENST00000347401.7:c.5694C=	ENSP00000315609.4:p.Phe1898=
ENST00000353578.8:c.6900C=	ENSP00000315873.4:p.Phe2300=
ENST00000409809.5:c.6900C=	ENSP00000386844.1:p.Phe2300=
ENST00000472056.5:c.5697C=	ENSP00000418285.1:p.Phe1899=
ENST00000491769.1:n.1772C=
NM_004369.3:c.7518C= , LRG_473t1:c.7518C=	NP_004360.2:p.Phe2506=
NM_057166.4:c.5697C=	NP_476507.3:p.Phe1899=
NM_057167.3:c.6900C=	NP_476508.2:p.Phe2300=
XM_005246065.1:c.6918C=	XP_005246122.1:p.Phe2306=
XM_005246066.1:c.6297C=	XP_005246123.1:p.Phe2099=
XM_006712253.1:c.7017C=	XP_006712316.1:p.Phe2339=
XM_011510574.1:c.7515C=	XP_011508876.1:p.Phe2505=
XM_011510575.1:c.5112C=	XP_011508877.1:p.Phe1704=
XM_017003304.1:c.5112C=	XP_016858793.1:p.Phe1704=
XM_024452684.1:c.6297C=	XP_024308452.1:p.Phe2099=
NM_004369.4:c.7518C= MANE Select	NP_004360.2:p.Phe2506=
NM_057166.5:c.5697C=	NP_476507.3:p.Phe1899=
NM_057167.4:c.6900C=	NP_476508.2:p.Phe2300=