Canonical Allele Identifier: CA343930575
Gene: HMCN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186166909T>G , CM000663.2:g.186166909T>G GRCh38
NC_000001.10:g.186136041T>G , CM000663.1:g.186136041T>G GRCh37
NC_000001.9:g.184402664T>G NCBI36
NG_011841.1:g.437359T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.15541T>G MANE Select ENSP00000271588.4:p.Phe5181Val
ENST00000271588.8:c.15541T>G ENSP00000271588.4:p.Phe5181Val
ENST00000475585.1:n.163-4428T>G
NM_031935.2:c.15541T>G NP_114141.2:p.Phe5181Val
XM_011510037.1:c.15256T>G XP_011508339.1:p.Phe5086Val
XM_011510038.1:c.15541T>G XP_011508340.1:p.Phe5181Val
XM_011510038.3:c.15541T>G XP_011508340.1:p.Phe5181Val
XM_017002437.1:c.13564T>G XP_016857926.1:p.Phe4522Val
NM_031935.3:c.15541T>G MANE Select NP_114141.2:p.Phe5181Val