Canonical Allele Identifier: CA343907173

Gene: HMCN1

Linked Data

• MyVariant Identifiers: chr1:g.186099185A>C (hg19) ; chr1:g.186130053A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186130053A>C , CM000663.2:g.186130053A>C	GRCh38
NC_000001.10:g.186099185A>C , CM000663.1:g.186099185A>C	GRCh37
NC_000001.9:g.184365808A>C	NCBI36
NG_011841.1:g.400503A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.12992A>C MANE Select	ENSP00000271588.4:p.Glu4331Ala
ENST00000271588.8:c.12992A>C	ENSP00000271588.4:p.Glu4331Ala
NM_031935.2:c.12992A>C	NP_114141.2:p.Glu4331Ala
XM_011510037.1:c.12707A>C	XP_011508339.1:p.Glu4236Ala
XM_011510038.1:c.12992A>C	XP_011508340.1:p.Glu4331Ala
XM_011510039.1:c.12992A>C	XP_011508341.1:p.Glu4331Ala
XM_011510038.3:c.12992A>C	XP_011508340.1:p.Glu4331Ala
XM_017002437.1:c.11015A>C	XP_016857926.1:p.Glu3672Ala
NM_031935.3:c.12992A>C MANE Select	NP_114141.2:p.Glu4331Ala