Canonical Allele Identifier: CA422330593
Gene: HMCN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.186099183A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186130051A>G , CM000663.2:g.186130051A>G GRCh38
NC_000001.10:g.186099183A>G , CM000663.1:g.186099183A>G GRCh37
NC_000001.9:g.184365806A>G NCBI36
NG_011841.1:g.400501A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.12990A>G MANE Select ENSP00000271588.4:p.Ala4330=
ENST00000271588.8:c.12990A>G ENSP00000271588.4:p.Ala4330=
NM_031935.2:c.12990A>G NP_114141.2:p.Ala4330=
XM_011510037.1:c.12705A>G XP_011508339.1:p.Ala4235=
XM_011510038.1:c.12990A>G XP_011508340.1:p.Ala4330=
XM_011510039.1:c.12990A>G XP_011508341.1:p.Ala4330=
XM_011510038.3:c.12990A>G XP_011508340.1:p.Ala4330=
XM_017002437.1:c.11013A>G XP_016857926.1:p.Ala3671=
NM_031935.3:c.12990A>G MANE Select NP_114141.2:p.Ala4330=