Canonical Allele Identifier: CA2188025

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237348627G>A , CM000664.2:g.237348627G>A	GRCh38
NC_000002.11:g.238257270G>A , CM000664.1:g.238257270G>A	GRCh37
NC_000002.10:g.237922009G>A	NCBI36
NG_008676.1:g.70581C>T , LRG_473:g.70581C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.6916C>T MANE Select	NP_004360.2:p.Arg2306Cys
ENST00000295550.9:c.6916C>T MANE Select	ENSP00000295550.4:p.Arg2306Cys
NM_004369.3:c.6916C>T , LRG_473t1:c.6916C>T	NP_004360.2:p.Arg2306Cys
NM_057166.4:c.5095C>T	NP_476507.3:p.Arg1699Cys
NM_057166.5:c.5095C>T	NP_476507.3:p.Arg1699Cys
NM_057167.3:c.6298C>T	NP_476508.2:p.Arg2100Cys
NM_057167.4:c.6298C>T	NP_476508.2:p.Arg2100Cys
ENST00000295550.8:c.6916C>T	ENSP00000295550.4:p.Arg2306Cys
ENST00000347401.7:c.5095C>T	ENSP00000315609.4:p.Arg1699Cys
ENST00000353578.8:c.6298C>T	ENSP00000315873.4:p.Arg2100Cys
ENST00000353578.9:c.6298C>T	ENSP00000315873.4:p.Arg2100Cys
ENST00000409809.5:c.6298C>T	ENSP00000386844.1:p.Arg2100Cys
ENST00000472056.5:c.5095C>T	ENSP00000418285.1:p.Arg1699Cys
ENST00000491769.1:n.1170C>T
XM_005246065.1:c.6316C>T	XP_005246122.1:p.Arg2106Cys
XM_005246066.1:c.5695C>T	XP_005246123.1:p.Arg1899Cys
XM_006712253.1:c.6415C>T	XP_006712316.1:p.Arg2139Cys
XM_011510574.1:c.6913C>T	XP_011508876.1:p.Arg2305Cys
XM_011510575.1:c.4510C>T	XP_011508877.1:p.Arg1504Cys
XM_017003304.1:c.4510C>T	XP_016858793.1:p.Arg1504Cys
XM_024452684.1:c.5695C>T	XP_024308452.1:p.Arg1899Cys