Canonical Allele Identifier: CA351187469

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237333531G>A , CM000664.2:g.237333531G>A	GRCh38
NC_000002.11:g.238242174G>A , CM000664.1:g.238242174G>A	GRCh37
NC_000002.10:g.237906913G>A	NCBI36
NG_008676.1:g.85677C>T , LRG_473:g.85677C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.9247C>T MANE Select	NP_004360.2:p.Pro3083Ser
ENST00000295550.9:c.9247C>T MANE Select	ENSP00000295550.4:p.Pro3083Ser
NM_004369.3:c.9247C>T , LRG_473t1:c.9247C>T	NP_004360.2:p.Pro3083Ser
NM_057166.4:c.7426C>T	NP_476507.3:p.Pro2476Ser
NM_057166.5:c.7426C>T	NP_476507.3:p.Pro2476Ser
NM_057167.3:c.8629C>T	NP_476508.2:p.Pro2877Ser
NM_057167.4:c.8629C>T	NP_476508.2:p.Pro2877Ser
ENST00000295550.8:c.9247C>T	ENSP00000295550.4:p.Pro3083Ser
ENST00000347401.7:c.7423C>T	ENSP00000315609.4:p.Pro2475Ser
ENST00000347401.8:c.1628C>T
ENST00000353578.8:c.8629C>T	ENSP00000315873.4:p.Pro2877Ser
ENST00000353578.9:c.8629C>T	ENSP00000315873.4:p.Pro2877Ser
ENST00000409809.5:c.8629C>T	ENSP00000386844.1:p.Pro2877Ser
ENST00000472056.5:c.7426C>T	ENSP00000418285.1:p.Pro2476Ser
ENST00000491769.1:n.5689C>T
ENST00000493608.1:n.179C>T
ENST00000682957.1:c.1374C>T
ENST00000683348.1:c.113C>T	ENSP00000508058.1:p.Thr38Ile
XM_005246065.1:c.8647C>T	XP_005246122.1:p.Pro2883Ser
XM_005246066.1:c.8026C>T	XP_005246123.1:p.Pro2676Ser
XM_006712253.1:c.8746C>T	XP_006712316.1:p.Pro2916Ser
XM_011510574.1:c.9244C>T	XP_011508876.1:p.Pro3082Ser
XM_011510575.1:c.6841C>T	XP_011508877.1:p.Pro2281Ser
XM_017003304.1:c.6841C>T	XP_016858793.1:p.Pro2281Ser
XM_024452684.1:c.8026C>T	XP_024308452.1:p.Pro2676Ser