Canonical Allele Identifier: CA387013866
Gene: HPD HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.122285028G>T (hg19) chr12:g.121847122G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121847122G>T , CM000674.2:g.121847122G>T GRCh38
NC_000012.11:g.122285028G>T , CM000674.1:g.122285028G>T GRCh37
NC_000012.10:g.120769411G>T NCBI36
NG_016461.1:g.46490C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000289004.8:c.689C>A MANE Select ENSP00000289004.4:p.Ala230Asp
ENST00000543163.5:c.572C>A ENSP00000441677.1:p.Ala191Asp
NM_001171993.1:c.572C>A NP_001165464.1:p.Ala191Asp
NM_002150.2:c.689C>A NP_002141.1:p.Ala230Asp
NM_002150.3:c.689C>A MANE Select NP_002141.2:p.Ala230Asp
NM_001171993.2:c.572C>A NP_001165464.1:p.Ala191Asp
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