Canonical Allele Identifier: CA422330595
Gene: HMCN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.186099186G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186130054G>A , CM000663.2:g.186130054G>A GRCh38
NC_000001.10:g.186099186G>A , CM000663.1:g.186099186G>A GRCh37
NC_000001.9:g.184365809G>A NCBI36
NG_011841.1:g.400504G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.12993G>A MANE Select ENSP00000271588.4:p.Glu4331=
ENST00000271588.8:c.12993G>A ENSP00000271588.4:p.Glu4331=
NM_031935.2:c.12993G>A NP_114141.2:p.Glu4331=
XM_011510037.1:c.12708G>A XP_011508339.1:p.Glu4236=
XM_011510038.1:c.12993G>A XP_011508340.1:p.Glu4331=
XM_011510039.1:c.12993G>A XP_011508341.1:p.Glu4331=
XM_011510038.3:c.12993G>A XP_011508340.1:p.Glu4331=
XM_017002437.1:c.11016G>A XP_016857926.1:p.Glu3672=
NM_031935.3:c.12993G>A MANE Select NP_114141.2:p.Glu4331=