Canonical Allele Identifier: CA2994119048

Gene: HMCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186171950G>A , CM000663.2:g.186171950G>A	GRCh38
NC_000001.10:g.186141082G>A , CM000663.1:g.186141082G>A	GRCh37
NC_000001.9:g.184407705G>A	NCBI36
NG_011841.1:g.442400G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.15689-56G>A MANE Select	ENSP00000271588.4:n.15689-56G>A
ENST00000271588.8:c.15689-56G>A	ENSP00000271588.4:n.15689-56G>A
ENST00000414277.1:c.65-56G>A	ENSP00000406205.1:n.65-56G>A
ENST00000475585.1:n.277-56G>A
NM_031935.2:c.15689-56G>A	NP_114141.2:n.15689-56G>A
XM_011510037.1:c.15404-56G>A	XP_011508339.1:n.15404-56G>A
XM_011510038.1:c.15689-56G>A	XP_011508340.1:n.15689-56G>A
XM_011510038.3:c.15689-56G>A	XP_011508340.1:n.15689-56G>A
XM_017002437.1:c.13712-56G>A	XP_016857926.1:n.13712-56G>A
NM_031935.3:c.15689-56G>A MANE Select	NP_114141.2:n.15689-56G>A