Canonical Allele Identifier: CA482174916
Gene: HPD HGNC NCBI
TIALD HGNC NCBI

Linked Data

dbSNP Id: rs1878039916
MyVariant Identifiers: chr12:g.122295258G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121857352G>A , CM000674.2:g.121857352G>A GRCh38
NC_000012.11:g.122295258G>A , CM000674.1:g.122295258G>A GRCh37
NC_000012.10:g.120779641G>A NCBI36
NG_016461.1:g.36260C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000289004.8:c.174C>T (HPD) MANE Select ENSP00000289004.4:p.Val58=
ENST00000535114.1:n.530C>T (HPD)
ENST00000542159.2:n.232C>T (HPD)
ENST00000543163.5:c.57C>T (HPD) ENSP00000441677.1:p.Val19=
NM_001171993.1:c.57C>T (HPD) NP_001165464.1:p.Val19=
NM_002150.2:c.174C>T (HPD) NP_002141.1:p.Val58=
XR_002957437.1:n.324-267G>A (TIALD)
NM_002150.3:c.174C>T (HPD) MANE Select NP_002141.2:p.Val58=
NM_001171993.2:c.57C>T (HPD) NP_001165464.1:p.Val19=
Search 100 bp 5'
Search 100 bp 3'