Canonical Allele Identifier: CA1337607237

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336516C= , CM000664.2:g.237336516C=	GRCh38
NC_000002.11:g.238245159C= , CM000664.1:g.238245159C=	GRCh37
NC_000002.10:g.237909898C=	NCBI36
NG_008676.1:g.82692G= , LRG_473:g.82692G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1229G=
ENST00000353578.9:c.7966G=	ENSP00000315873.4:p.Val2656=
ENST00000682957.1:c.711G=
ENST00000684508.1:n.851G=
ENST00000295550.9:c.8584G= MANE Select	ENSP00000295550.4:p.Val2862=
ENST00000295550.8:c.8584G=	ENSP00000295550.4:p.Val2862=
ENST00000347401.7:c.6760G=	ENSP00000315609.4:p.Val2254=
ENST00000353578.8:c.7966G=	ENSP00000315873.4:p.Val2656=
ENST00000409809.5:c.7966G=	ENSP00000386844.1:p.Val2656=
ENST00000472056.5:c.6763G=	ENSP00000418285.1:p.Val2255=
ENST00000491769.1:n.5026G=
NM_004369.3:c.8584G= , LRG_473t1:c.8584G=	NP_004360.2:p.Val2862=
NM_057166.4:c.6763G=	NP_476507.3:p.Val2255=
NM_057167.3:c.7966G=	NP_476508.2:p.Val2656=
XM_005246065.1:c.7984G=	XP_005246122.1:p.Val2662=
XM_005246066.1:c.7363G=	XP_005246123.1:p.Val2455=
XM_006712253.1:c.8083G=	XP_006712316.1:p.Val2695=
XM_011510574.1:c.8581G=	XP_011508876.1:p.Val2861=
XM_011510575.1:c.6178G=	XP_011508877.1:p.Val2060=
XM_017003304.1:c.6178G=	XP_016858793.1:p.Val2060=
XM_024452684.1:c.7363G=	XP_024308452.1:p.Val2455=
NM_004369.4:c.8584G= MANE Select	NP_004360.2:p.Val2862=
NM_057166.5:c.6763G=	NP_476507.3:p.Val2255=
NM_057167.4:c.7966G=	NP_476508.2:p.Val2656=