Canonical Allele Identifier: CA387001856
Gene: HPD HGNC NCBI
TIALD HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.122295239C>G (hg19) chr12:g.121857333C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121857333C>G , CM000674.2:g.121857333C>G GRCh38
NC_000012.11:g.122295239C>G , CM000674.1:g.122295239C>G GRCh37
NC_000012.10:g.120779622C>G NCBI36
NG_016461.1:g.36279G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000289004.8:c.193G>C (HPD) MANE Select ENSP00000289004.4:p.Gly65Arg
ENST00000535114.1:n.549G>C (HPD)
ENST00000542159.2:n.251G>C (HPD)
ENST00000543163.5:c.76G>C (HPD) ENSP00000441677.1:p.Gly26Arg
NM_001171993.1:c.76G>C (HPD) NP_001165464.1:p.Gly26Arg
NM_002150.2:c.193G>C (HPD) NP_002141.1:p.Gly65Arg
XR_002957437.1:n.324-286C>G (TIALD)
NM_002150.3:c.193G>C (HPD) MANE Select NP_002141.2:p.Gly65Arg
NM_001171993.2:c.76G>C (HPD) NP_001165464.1:p.Gly26Arg
Search 100 bp 5'
Search 100 bp 3'