Canonical Allele Identifier: CA387002025
Gene: HPD HGNC NCBI
TIALD HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.122295260C>A (hg19) chr12:g.121857354C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121857354C>A , CM000674.2:g.121857354C>A GRCh38
NC_000012.11:g.122295260C>A , CM000674.1:g.122295260C>A GRCh37
NC_000012.10:g.120779643C>A NCBI36
NG_016461.1:g.36258G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000289004.8:c.172G>T (HPD) MANE Select ENSP00000289004.4:p.Val58Phe
ENST00000535114.1:n.528G>T (HPD)
ENST00000542159.2:n.230G>T (HPD)
ENST00000543163.5:c.55G>T (HPD) ENSP00000441677.1:p.Val19Phe
NM_001171993.1:c.55G>T (HPD) NP_001165464.1:p.Val19Phe
NM_002150.2:c.172G>T (HPD) NP_002141.1:p.Val58Phe
XR_002957437.1:n.324-265C>A (TIALD)
NM_002150.3:c.172G>T (HPD) MANE Select NP_002141.2:p.Val58Phe
NM_001171993.2:c.55G>T (HPD) NP_001165464.1:p.Val19Phe
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