Canonical Allele Identifier: CA387002007
Gene: HPD HGNC NCBI
TIALD HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.122295257T>A (hg19) chr12:g.121857351T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121857351T>A , CM000674.2:g.121857351T>A GRCh38
NC_000012.11:g.122295257T>A , CM000674.1:g.122295257T>A GRCh37
NC_000012.10:g.120779640T>A NCBI36
NG_016461.1:g.36261A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000289004.8:c.175A>T (HPD) MANE Select ENSP00000289004.4:p.Ser59Cys
ENST00000535114.1:n.531A>T (HPD)
ENST00000542159.2:n.233A>T (HPD)
ENST00000543163.5:c.58A>T (HPD) ENSP00000441677.1:p.Ser20Cys
NM_001171993.1:c.58A>T (HPD) NP_001165464.1:p.Ser20Cys
NM_002150.2:c.175A>T (HPD) NP_002141.1:p.Ser59Cys
XR_002957437.1:n.324-268T>A (TIALD)
NM_002150.3:c.175A>T (HPD) MANE Select NP_002141.2:p.Ser59Cys
NM_001171993.2:c.58A>T (HPD) NP_001165464.1:p.Ser20Cys
Search 100 bp 5'
Search 100 bp 3'