Canonical Allele Identifier: CA2188028

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237348641A>G , CM000664.2:g.237348641A>G	GRCh38
NC_000002.11:g.238257284A>G , CM000664.1:g.238257284A>G	GRCh37
NC_000002.10:g.237922023A>G	NCBI36
NG_008676.1:g.70567T>C , LRG_473:g.70567T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.6902T>C MANE Select	NP_004360.2:p.Val2301Ala
ENST00000295550.9:c.6902T>C MANE Select	ENSP00000295550.4:p.Val2301Ala
NM_004369.3:c.6902T>C , LRG_473t1:c.6902T>C	NP_004360.2:p.Val2301Ala
NM_057166.4:c.5081T>C	NP_476507.3:p.Val1694Ala
NM_057166.5:c.5081T>C	NP_476507.3:p.Val1694Ala
NM_057167.3:c.6284T>C	NP_476508.2:p.Val2095Ala
NM_057167.4:c.6284T>C	NP_476508.2:p.Val2095Ala
ENST00000295550.8:c.6902T>C	ENSP00000295550.4:p.Val2301Ala
ENST00000347401.7:c.5081T>C	ENSP00000315609.4:p.Val1694Ala
ENST00000353578.8:c.6284T>C	ENSP00000315873.4:p.Val2095Ala
ENST00000353578.9:c.6284T>C	ENSP00000315873.4:p.Val2095Ala
ENST00000409809.5:c.6284T>C	ENSP00000386844.1:p.Val2095Ala
ENST00000472056.5:c.5081T>C	ENSP00000418285.1:p.Val1694Ala
ENST00000491769.1:n.1156T>C
XM_005246065.1:c.6302T>C	XP_005246122.1:p.Val2101Ala
XM_005246066.1:c.5681T>C	XP_005246123.1:p.Val1894Ala
XM_006712253.1:c.6401T>C	XP_006712316.1:p.Val2134Ala
XM_011510574.1:c.6899T>C	XP_011508876.1:p.Val2300Ala
XM_011510575.1:c.4496T>C	XP_011508877.1:p.Val1499Ala
XM_017003304.1:c.4496T>C	XP_016858793.1:p.Val1499Ala
XM_024452684.1:c.5681T>C	XP_024308452.1:p.Val1894Ala