Canonical Allele Identifier: CA431698450

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237334663A>C , CM000664.2:g.237334663A>C	GRCh38
NC_000002.11:g.238243306A>C , CM000664.1:g.238243306A>C	GRCh37
NC_000002.10:g.237908045A>C	NCBI36
NG_008676.1:g.84545T>G , LRG_473:g.84545T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.9192T>G MANE Select	NP_004360.2:p.Ser3064=
ENST00000295550.9:c.9192T>G MANE Select	ENSP00000295550.4:p.Ser3064=
NM_004369.3:c.9192T>G , LRG_473t1:c.9192T>G	NP_004360.2:p.Ser3064=
NM_057166.4:c.7371T>G	NP_476507.3:p.Ser2457=
NM_057166.5:c.7371T>G	NP_476507.3:p.Ser2457=
NM_057167.3:c.8574T>G	NP_476508.2:p.Ser2858=
NM_057167.4:c.8574T>G	NP_476508.2:p.Ser2858=
ENST00000295550.8:c.9192T>G	ENSP00000295550.4:p.Ser3064=
ENST00000347401.7:c.7368T>G	ENSP00000315609.4:p.Ser2456=
ENST00000347401.8:c.1611-1115T>G
ENST00000353578.8:c.8574T>G	ENSP00000315873.4:p.Ser2858=
ENST00000353578.9:c.8574T>G	ENSP00000315873.4:p.Ser2858=
ENST00000409809.5:c.8574T>G	ENSP00000386844.1:p.Ser2858=
ENST00000472056.5:c.7371T>G	ENSP00000418285.1:p.Ser2457=
ENST00000491769.1:n.5634T>G
ENST00000493608.1:n.124T>G
ENST00000682957.1:c.1319T>G
ENST00000683348.1:c.60T>G	ENSP00000508058.1:p.Ser20=
XM_005246065.1:c.8592T>G	XP_005246122.1:p.Ser2864=
XM_005246066.1:c.7971T>G	XP_005246123.1:p.Ser2657=
XM_006712253.1:c.8691T>G	XP_006712316.1:p.Ser2897=
XM_011510574.1:c.9189T>G	XP_011508876.1:p.Ser3063=
XM_011510575.1:c.6786T>G	XP_011508877.1:p.Ser2262=
XM_017003304.1:c.6786T>G	XP_016858793.1:p.Ser2262=
XM_024452684.1:c.7971T>G	XP_024308452.1:p.Ser2657=