Canonical Allele Identifier: CA343907195
Gene: HMCN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186130057C>A , CM000663.2:g.186130057C>A GRCh38
NC_000001.10:g.186099189C>A , CM000663.1:g.186099189C>A GRCh37
NC_000001.9:g.184365812C>A NCBI36
NG_011841.1:g.400507C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.12996C>A MANE Select ENSP00000271588.4:p.Asn4332Lys
ENST00000271588.8:c.12996C>A ENSP00000271588.4:p.Asn4332Lys
NM_031935.2:c.12996C>A NP_114141.2:p.Asn4332Lys
XM_011510037.1:c.12711C>A XP_011508339.1:p.Asn4237Lys
XM_011510038.1:c.12996C>A XP_011508340.1:p.Asn4332Lys
XM_011510039.1:c.12996C>A XP_011508341.1:p.Asn4332Lys
XM_011510038.3:c.12996C>A XP_011508340.1:p.Asn4332Lys
XM_017002437.1:c.11019C>A XP_016857926.1:p.Asn3673Lys
NM_031935.3:c.12996C>A MANE Select NP_114141.2:p.Asn4332Lys