Canonical Allele Identifier: CA2187493

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336504G>A , CM000664.2:g.237336504G>A	GRCh38
NC_000002.11:g.238245147G>A , CM000664.1:g.238245147G>A	GRCh37
NC_000002.10:g.237909886G>A	NCBI36
NG_008676.1:g.82704C>T , LRG_473:g.82704C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1241C>T
ENST00000353578.9:c.7978C>T	ENSP00000315873.4:p.Pro2660Ser
ENST00000682957.1:c.723C>T
ENST00000684508.1:n.863C>T
ENST00000295550.9:c.8596C>T MANE Select	ENSP00000295550.4:p.Pro2866Ser
ENST00000295550.8:c.8596C>T	ENSP00000295550.4:p.Pro2866Ser
ENST00000347401.7:c.6772C>T	ENSP00000315609.4:p.Pro2258Ser
ENST00000353578.8:c.7978C>T	ENSP00000315873.4:p.Pro2660Ser
ENST00000409809.5:c.7978C>T	ENSP00000386844.1:p.Pro2660Ser
ENST00000472056.5:c.6775C>T	ENSP00000418285.1:p.Pro2259Ser
ENST00000491769.1:n.5038C>T
NM_004369.3:c.8596C>T , LRG_473t1:c.8596C>T	NP_004360.2:p.Pro2866Ser
NM_057166.4:c.6775C>T	NP_476507.3:p.Pro2259Ser
NM_057167.3:c.7978C>T	NP_476508.2:p.Pro2660Ser
XM_005246065.1:c.7996C>T	XP_005246122.1:p.Pro2666Ser
XM_005246066.1:c.7375C>T	XP_005246123.1:p.Pro2459Ser
XM_006712253.1:c.8095C>T	XP_006712316.1:p.Pro2699Ser
XM_011510574.1:c.8593C>T	XP_011508876.1:p.Pro2865Ser
XM_011510575.1:c.6190C>T	XP_011508877.1:p.Pro2064Ser
XM_017003304.1:c.6190C>T	XP_016858793.1:p.Pro2064Ser
XM_024452684.1:c.7375C>T	XP_024308452.1:p.Pro2459Ser
NM_004369.4:c.8596C>T MANE Select	NP_004360.2:p.Pro2866Ser
NM_057166.5:c.6775C>T	NP_476507.3:p.Pro2259Ser
NM_057167.4:c.7978C>T	NP_476508.2:p.Pro2660Ser