Canonical Allele Identifier: CA343935037

Gene: HMCN1

Linked Data

• MyVariant Identifiers: chr1:g.186143658G>A (hg19) ; chr1:g.186174526G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186174526G>A , CM000663.2:g.186174526G>A	GRCh38
NC_000001.10:g.186143658G>A , CM000663.1:g.186143658G>A	GRCh37
NC_000001.9:g.184410281G>A	NCBI36
NG_011841.1:g.444976G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.15827G>A MANE Select	ENSP00000271588.4:p.Cys5276Tyr
ENST00000271588.8:c.15827G>A	ENSP00000271588.4:p.Cys5276Tyr
ENST00000414277.1:c.203G>A	ENSP00000406205.1:p.Cys68Tyr
NM_031935.2:c.15827G>A	NP_114141.2:p.Cys5276Tyr
XM_011510037.1:c.15542G>A	XP_011508339.1:p.Cys5181Tyr
XM_011510038.1:c.15827G>A	XP_011508340.1:p.Cys5276Tyr
XM_011510038.3:c.15827G>A	XP_011508340.1:p.Cys5276Tyr
XM_017002437.1:c.13850G>A	XP_016857926.1:p.Cys4617Tyr
NM_031935.3:c.15827G>A MANE Select	NP_114141.2:p.Cys5276Tyr