Canonical Allele Identifier: CA343882990

Gene: HMCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.185909403G>T , CM000663.2:g.185909403G>T	GRCh38
NC_000001.10:g.185878535G>T , CM000663.1:g.185878535G>T	GRCh37
NC_000001.9:g.184145158G>T	NCBI36
NG_011841.1:g.179853G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.688G>T MANE Select	ENSP00000271588.4:p.Glu230Ter
ENST00000271588.8:c.688G>T	ENSP00000271588.4:p.Glu230Ter
NM_031935.2:c.688G>T	NP_114141.2:p.Glu230Ter
XM_011510037.1:c.688G>T	XP_011508339.1:p.Glu230Ter
XM_011510038.1:c.688G>T	XP_011508340.1:p.Glu230Ter
XM_011510039.1:c.688G>T	XP_011508341.1:p.Glu230Ter
XM_011510040.1:c.688G>T	XP_011508342.1:p.Glu230Ter
XM_011510041.1:c.688G>T	XP_011508343.1:p.Glu230Ter
XM_011510038.3:c.688G>T	XP_011508340.1:p.Glu230Ter
XM_011510041.3:c.688G>T	XP_011508343.1:p.Glu230Ter
XM_024450118.1:c.688G>T	XP_024305886.1:p.Glu230Ter
NM_031935.3:c.688G>T MANE Select	NP_114141.2:p.Glu230Ter