Canonical Allele Identifier: CA343907207

Gene: HMCN1

Linked Data

• MyVariant Identifiers: chr1:g.186099191G>C (hg19) ; chr1:g.186130059G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186130059G>C , CM000663.2:g.186130059G>C	GRCh38
NC_000001.10:g.186099191G>C , CM000663.1:g.186099191G>C	GRCh37
NC_000001.9:g.184365814G>C	NCBI36
NG_011841.1:g.400509G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.12998G>C MANE Select	ENSP00000271588.4:p.Ser4333Thr
ENST00000271588.8:c.12998G>C	ENSP00000271588.4:p.Ser4333Thr
NM_031935.2:c.12998G>C	NP_114141.2:p.Ser4333Thr
XM_011510037.1:c.12713G>C	XP_011508339.1:p.Ser4238Thr
XM_011510038.1:c.12998G>C	XP_011508340.1:p.Ser4333Thr
XM_011510039.1:c.12998G>C	XP_011508341.1:p.Ser4333Thr
XM_011510038.3:c.12998G>C	XP_011508340.1:p.Ser4333Thr
XM_017002437.1:c.11021G>C	XP_016857926.1:p.Ser3674Thr
NM_031935.3:c.12998G>C MANE Select	NP_114141.2:p.Ser4333Thr