Canonical Allele Identifier: CA2188794

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237368583G>T , CM000664.2:g.237368583G>T	GRCh38
NC_000002.11:g.238277226G>T , CM000664.1:g.238277226G>T	GRCh37
NC_000002.10:g.237941965G>T	NCBI36
NG_008676.1:g.50625C>A , LRG_473:g.50625C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.4880C>A MANE Select	NP_004360.2:p.Thr1627Asn
ENST00000295550.9:c.4880C>A MANE Select	ENSP00000295550.4:p.Thr1627Asn
NM_004369.3:c.4880C>A , LRG_473t1:c.4880C>A	NP_004360.2:p.Thr1627Asn
NM_057166.4:c.3059C>A	NP_476507.3:p.Thr1020Asn
NM_057166.5:c.3059C>A	NP_476507.3:p.Thr1020Asn
NM_057167.3:c.4262C>A	NP_476508.2:p.Thr1421Asn
NM_057167.4:c.4262C>A	NP_476508.2:p.Thr1421Asn
ENST00000295550.8:c.4880C>A	ENSP00000295550.4:p.Thr1627Asn
ENST00000347401.7:c.3059C>A	ENSP00000315609.4:p.Thr1020Asn
ENST00000353578.8:c.4262C>A	ENSP00000315873.4:p.Thr1421Asn
ENST00000353578.9:c.4262C>A	ENSP00000315873.4:p.Thr1421Asn
ENST00000409809.5:c.4262C>A	ENSP00000386844.1:p.Thr1421Asn
ENST00000472056.5:c.3059C>A	ENSP00000418285.1:p.Thr1020Asn
ENST00000684597.1:c.210C>A
XM_005246065.1:c.4280C>A	XP_005246122.1:p.Thr1427Asn
XM_005246066.1:c.3659C>A	XP_005246123.1:p.Thr1220Asn
XM_006712253.1:c.4379C>A	XP_006712316.1:p.Thr1460Asn
XM_011510574.1:c.4877C>A	XP_011508876.1:p.Thr1626Asn
XM_011510575.1:c.2474C>A	XP_011508877.1:p.Thr825Asn
XM_017003304.1:c.2474C>A	XP_016858793.1:p.Thr825Asn
XM_024452684.1:c.3659C>A	XP_024308452.1:p.Thr1220Asn