Canonical Allele Identifier: CA1290930

Gene: HMCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.185909484A>G , CM000663.2:g.185909484A>G	GRCh38
NC_000001.10:g.185878616A>G , CM000663.1:g.185878616A>G	GRCh37
NC_000001.9:g.184145239A>G	NCBI36
NG_011841.1:g.179934A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.769A>G MANE Select	ENSP00000271588.4:p.Met257Val
ENST00000271588.8:c.769A>G	ENSP00000271588.4:p.Met257Val
NM_031935.2:c.769A>G	NP_114141.2:p.Met257Val
XM_011510037.1:c.769A>G	XP_011508339.1:p.Met257Val
XM_011510038.1:c.769A>G	XP_011508340.1:p.Met257Val
XM_011510039.1:c.769A>G	XP_011508341.1:p.Met257Val
XM_011510040.1:c.769A>G	XP_011508342.1:p.Met257Val
XM_011510041.1:c.769A>G	XP_011508343.1:p.Met257Val
XM_011510038.3:c.769A>G	XP_011508340.1:p.Met257Val
XM_011510041.3:c.769A>G	XP_011508343.1:p.Met257Val
XM_024450118.1:c.769A>G	XP_024305886.1:p.Met257Val
NM_031935.3:c.769A>G MANE Select	NP_114141.2:p.Met257Val