Canonical Allele Identifier: CA1337607235

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336508T= , CM000664.2:g.237336508T=	GRCh38
NC_000002.11:g.238245151T= , CM000664.1:g.238245151T=	GRCh37
NC_000002.10:g.237909890T=	NCBI36
NG_008676.1:g.82700A= , LRG_473:g.82700A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1237A=
ENST00000353578.9:c.7974A=	ENSP00000315873.4:p.Ser2658=
ENST00000682957.1:c.719A=
ENST00000684508.1:n.859A=
ENST00000295550.9:c.8592A= MANE Select	ENSP00000295550.4:p.Ser2864=
ENST00000295550.8:c.8592A=	ENSP00000295550.4:p.Ser2864=
ENST00000347401.7:c.6768A=	ENSP00000315609.4:p.Ser2256=
ENST00000353578.8:c.7974A=	ENSP00000315873.4:p.Ser2658=
ENST00000409809.5:c.7974A=	ENSP00000386844.1:p.Ser2658=
ENST00000472056.5:c.6771A=	ENSP00000418285.1:p.Ser2257=
ENST00000491769.1:n.5034A=
NM_004369.3:c.8592A= , LRG_473t1:c.8592A=	NP_004360.2:p.Ser2864=
NM_057166.4:c.6771A=	NP_476507.3:p.Ser2257=
NM_057167.3:c.7974A=	NP_476508.2:p.Ser2658=
XM_005246065.1:c.7992A=	XP_005246122.1:p.Ser2664=
XM_005246066.1:c.7371A=	XP_005246123.1:p.Ser2457=
XM_006712253.1:c.8091A=	XP_006712316.1:p.Ser2697=
XM_011510574.1:c.8589A=	XP_011508876.1:p.Ser2863=
XM_011510575.1:c.6186A=	XP_011508877.1:p.Ser2062=
XM_017003304.1:c.6186A=	XP_016858793.1:p.Ser2062=
XM_024452684.1:c.7371A=	XP_024308452.1:p.Ser2457=
NM_004369.4:c.8592A= MANE Select	NP_004360.2:p.Ser2864=
NM_057166.5:c.6771A=	NP_476507.3:p.Ser2257=
NM_057167.4:c.7974A=	NP_476508.2:p.Ser2658=