Canonical Allele Identifier: CA343883966

Gene: HMCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.185909486G>T , CM000663.2:g.185909486G>T	GRCh38
NC_000001.10:g.185878618G>T , CM000663.1:g.185878618G>T	GRCh37
NC_000001.9:g.184145241G>T	NCBI36
NG_011841.1:g.179936G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.771G>T MANE Select	ENSP00000271588.4:p.Met257Ile
ENST00000271588.8:c.771G>T	ENSP00000271588.4:p.Met257Ile
NM_031935.2:c.771G>T	NP_114141.2:p.Met257Ile
XM_011510037.1:c.771G>T	XP_011508339.1:p.Met257Ile
XM_011510038.1:c.771G>T	XP_011508340.1:p.Met257Ile
XM_011510039.1:c.771G>T	XP_011508341.1:p.Met257Ile
XM_011510040.1:c.771G>T	XP_011508342.1:p.Met257Ile
XM_011510041.1:c.771G>T	XP_011508343.1:p.Met257Ile
XM_011510038.3:c.771G>T	XP_011508340.1:p.Met257Ile
XM_011510041.3:c.771G>T	XP_011508343.1:p.Met257Ile
XM_024450118.1:c.771G>T	XP_024305886.1:p.Met257Ile
NM_031935.3:c.771G>T MANE Select	NP_114141.2:p.Met257Ile