Canonical Allele Identifier: CA2580061660

Gene: HMCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.185864645C>T , CM000663.2:g.185864645C>T	GRCh38
NC_000001.10:g.185833777C>T , CM000663.1:g.185833777C>T	GRCh37
NC_000001.9:g.184100400C>T	NCBI36
NG_011841.1:g.135095C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_031935.3:c.498+17C>T MANE Select	NP_114141.2:n.498+17C>T
ENST00000271588.9:c.498+17C>T MANE Select	ENSP00000271588.4:n.498+17C>T
NM_031935.2:c.498+17C>T	NP_114141.2:n.498+17C>T
ENST00000271588.8:c.498+17C>T	ENSP00000271588.4:n.498+17C>T
XM_011510037.1:c.498+17C>T	XP_011508339.1:n.498+17C>T
XM_011510038.1:c.498+17C>T	XP_011508340.1:n.498+17C>T
XM_011510038.3:c.498+17C>T	XP_011508340.1:n.498+17C>T
XM_011510039.1:c.498+17C>T	XP_011508341.1:n.498+17C>T
XM_011510040.1:c.498+17C>T	XP_011508342.1:n.498+17C>T
XM_011510041.1:c.498+17C>T	XP_011508343.1:n.498+17C>T
XM_011510041.3:c.498+17C>T	XP_011508343.1:n.498+17C>T
XM_024450118.1:c.498+17C>T	XP_024305886.1:n.498+17C>T