Canonical Allele Identifier: CA387012876
Gene: HPD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121846921A>G , CM000674.2:g.121846921A>G GRCh38
NC_000012.11:g.122284827A>G , CM000674.1:g.122284827A>G GRCh37
NC_000012.10:g.120769210A>G NCBI36
NG_016461.1:g.46691T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000289004.8:c.772T>C MANE Select ENSP00000289004.4:p.Tyr258His
ENST00000543163.5:c.655T>C ENSP00000441677.1:p.Tyr219His
NM_001171993.1:c.655T>C NP_001165464.1:p.Tyr219His
NM_002150.2:c.772T>C NP_002141.1:p.Tyr258His
NM_002150.3:c.772T>C MANE Select NP_002141.2:p.Tyr258His
NM_001171993.2:c.655T>C NP_001165464.1:p.Tyr219His