Canonical Allele Identifier: CA343931426

Gene: HMCN1

Linked Data

• MyVariant Identifiers: chr1:g.186064626A>T (hg19) ; chr1:g.186095494A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186095494A>T , CM000663.2:g.186095494A>T	GRCh38
NC_000001.10:g.186064626A>T , CM000663.1:g.186064626A>T	GRCh37
NC_000001.9:g.184331249A>T	NCBI36
NG_011841.1:g.365944A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.10546A>T MANE Select	ENSP00000271588.4:p.Ser3516Cys
ENST00000271588.8:c.10546A>T	ENSP00000271588.4:p.Ser3516Cys
NM_031935.2:c.10546A>T	NP_114141.2:p.Ser3516Cys
XM_011510037.1:c.10261A>T	XP_011508339.1:p.Ser3421Cys
XM_011510038.1:c.10546A>T	XP_011508340.1:p.Ser3516Cys
XM_011510039.1:c.10546A>T	XP_011508341.1:p.Ser3516Cys
XM_011510038.3:c.10546A>T	XP_011508340.1:p.Ser3516Cys
XM_017002437.1:c.8569A>T	XP_016857926.1:p.Ser2857Cys
NM_031935.3:c.10546A>T MANE Select	NP_114141.2:p.Ser3516Cys