Canonical Allele Identifier: CA1337617821

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237360129T= , CM000664.2:g.237360129T=	GRCh38
NC_000002.11:g.238268772T= , CM000664.1:g.238268772T=	GRCh37
NC_000002.10:g.237933511T=	NCBI36
NG_008676.1:g.59079A= , LRG_473:g.59079A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.5623A=	ENSP00000315873.4:p.Thr1875=
ENST00000295550.9:c.6241A= MANE Select	ENSP00000295550.4:p.Thr2081=
ENST00000295550.8:c.6241A=	ENSP00000295550.4:p.Thr2081=
ENST00000347401.7:c.4420A=	ENSP00000315609.4:p.Thr1474=
ENST00000353578.8:c.5623A=	ENSP00000315873.4:p.Thr1875=
ENST00000409809.5:c.5623A=	ENSP00000386844.1:p.Thr1875=
ENST00000472056.5:c.4420A=	ENSP00000418285.1:p.Thr1474=
NM_004369.3:c.6241A= , LRG_473t1:c.6241A=	NP_004360.2:p.Thr2081=
NM_057166.4:c.4420A=	NP_476507.3:p.Thr1474=
NM_057167.3:c.5623A=	NP_476508.2:p.Thr1875=
XM_005246065.1:c.5641A=	XP_005246122.1:p.Thr1881=
XM_005246066.1:c.5020A=	XP_005246123.1:p.Thr1674=
XM_006712253.1:c.5740A=	XP_006712316.1:p.Thr1914=
XM_011510574.1:c.6238A=	XP_011508876.1:p.Thr2080=
XM_011510575.1:c.3835A=	XP_011508877.1:p.Thr1279=
XM_017003304.1:c.3835A=	XP_016858793.1:p.Thr1279=
XM_024452684.1:c.5020A=	XP_024308452.1:p.Thr1674=
NM_004369.4:c.6241A= MANE Select	NP_004360.2:p.Thr2081=
NM_057166.5:c.4420A=	NP_476507.3:p.Thr1474=
NM_057167.4:c.5623A=	NP_476508.2:p.Thr1875=