Canonical Allele Identifier: CA2994118523

Gene: HMCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186122861A>C , CM000663.2:g.186122861A>C	GRCh38
NC_000001.10:g.186091993A>C , CM000663.1:g.186091993A>C	GRCh37
NC_000001.9:g.184358616A>C	NCBI36
NG_011841.1:g.393311A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.12230-90A>C MANE Select	ENSP00000271588.4:n.12230-90A>C
ENST00000271588.8:c.12230-90A>C	ENSP00000271588.4:n.12230-90A>C
NM_031935.2:c.12230-90A>C	NP_114141.2:n.12230-90A>C
XM_011510037.1:c.11945-90A>C	XP_011508339.1:n.11945-90A>C
XM_011510038.1:c.12230-90A>C	XP_011508340.1:n.12230-90A>C
XM_011510039.1:c.12230-90A>C	XP_011508341.1:n.12230-90A>C
XM_011510038.3:c.12230-90A>C	XP_011508340.1:n.12230-90A>C
XM_017002437.1:c.10253-90A>C	XP_016857926.1:n.10253-90A>C
NM_031935.3:c.12230-90A>C MANE Select	NP_114141.2:n.12230-90A>C