Canonical Allele Identifier: CA387001995
Gene: HPD HGNC NCBI
TIALD HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.122295256C>A (hg19) chr12:g.121857350C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121857350C>A , CM000674.2:g.121857350C>A GRCh38
NC_000012.11:g.122295256C>A , CM000674.1:g.122295256C>A GRCh37
NC_000012.10:g.120779639C>A NCBI36
NG_016461.1:g.36262G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000289004.8:c.176G>T (HPD) MANE Select ENSP00000289004.4:p.Ser59Ile
ENST00000535114.1:n.532G>T (HPD)
ENST00000542159.2:n.234G>T (HPD)
ENST00000543163.5:c.59G>T (HPD) ENSP00000441677.1:p.Ser20Ile
NM_001171993.1:c.59G>T (HPD) NP_001165464.1:p.Ser20Ile
NM_002150.2:c.176G>T (HPD) NP_002141.1:p.Ser59Ile
XR_002957437.1:n.324-269C>A (TIALD)
NM_002150.3:c.176G>T (HPD) MANE Select NP_002141.2:p.Ser59Ile
NM_001171993.2:c.59G>T (HPD) NP_001165464.1:p.Ser20Ile
Search 100 bp 5'
Search 100 bp 3'