Canonical Allele Identifier: CA1290873

Gene: HMCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.185865750G>A , CM000663.2:g.185865750G>A	GRCh38
NC_000001.10:g.185834882G>A , CM000663.1:g.185834882G>A	GRCh37
NC_000001.9:g.184101505G>A	NCBI36
NG_011841.1:g.136200G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.508G>A MANE Select	ENSP00000271588.4:p.Val170Ile
ENST00000271588.8:c.508G>A	ENSP00000271588.4:p.Val170Ile
NM_031935.2:c.508G>A	NP_114141.2:p.Val170Ile
XM_011510037.1:c.508G>A	XP_011508339.1:p.Val170Ile
XM_011510038.1:c.508G>A	XP_011508340.1:p.Val170Ile
XM_011510039.1:c.508G>A	XP_011508341.1:p.Val170Ile
XM_011510040.1:c.508G>A	XP_011508342.1:p.Val170Ile
XM_011510041.1:c.508G>A	XP_011508343.1:p.Val170Ile
XM_011510038.3:c.508G>A	XP_011508340.1:p.Val170Ile
XM_011510041.3:c.508G>A	XP_011508343.1:p.Val170Ile
XM_024450118.1:c.508G>A	XP_024305886.1:p.Val170Ile
NM_031935.3:c.508G>A MANE Select	NP_114141.2:p.Val170Ile