Canonical Allele Identifier: CA2188597

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237365820A>G , CM000664.2:g.237365820A>G	GRCh38
NC_000002.11:g.238274463A>G , CM000664.1:g.238274463A>G	GRCh37
NC_000002.10:g.237939202A>G	NCBI36
NG_008676.1:g.53388T>C , LRG_473:g.53388T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.5716T>C MANE Select	NP_004360.2:p.Tyr1906His
ENST00000295550.9:c.5716T>C MANE Select	ENSP00000295550.4:p.Tyr1906His
NM_004369.3:c.5716T>C , LRG_473t1:c.5716T>C	NP_004360.2:p.Tyr1906His
NM_057166.4:c.3895T>C	NP_476507.3:p.Tyr1299His
NM_057166.5:c.3895T>C	NP_476507.3:p.Tyr1299His
NM_057167.3:c.5098T>C	NP_476508.2:p.Tyr1700His
NM_057167.4:c.5098T>C	NP_476508.2:p.Tyr1700His
ENST00000295550.8:c.5716T>C	ENSP00000295550.4:p.Tyr1906His
ENST00000347401.7:c.3895T>C	ENSP00000315609.4:p.Tyr1299His
ENST00000353578.8:c.5098T>C	ENSP00000315873.4:p.Tyr1700His
ENST00000353578.9:c.5098T>C	ENSP00000315873.4:p.Tyr1700His
ENST00000409809.5:c.5098T>C	ENSP00000386844.1:p.Tyr1700His
ENST00000472056.5:c.3895T>C	ENSP00000418285.1:p.Tyr1299His
XM_005246065.1:c.5116T>C	XP_005246122.1:p.Tyr1706His
XM_005246066.1:c.4495T>C	XP_005246123.1:p.Tyr1499His
XM_006712253.1:c.5215T>C	XP_006712316.1:p.Tyr1739His
XM_011510574.1:c.5713T>C	XP_011508876.1:p.Tyr1905His
XM_011510575.1:c.3310T>C	XP_011508877.1:p.Tyr1104His
XM_017003304.1:c.3310T>C	XP_016858793.1:p.Tyr1104His
XM_024452684.1:c.4495T>C	XP_024308452.1:p.Tyr1499His