Canonical Allele Identifier: CA387001955
Gene: HPD HGNC NCBI
TIALD HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.122295251C>G (hg19) chr12:g.121857345C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121857345C>G , CM000674.2:g.121857345C>G GRCh38
NC_000012.11:g.122295251C>G , CM000674.1:g.122295251C>G GRCh37
NC_000012.10:g.120779634C>G NCBI36
NG_016461.1:g.36267G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000289004.8:c.181G>C (HPD) MANE Select ENSP00000289004.4:p.Val61Leu
ENST00000535114.1:n.537G>C (HPD)
ENST00000542159.2:n.239G>C (HPD)
ENST00000543163.5:c.64G>C (HPD) ENSP00000441677.1:p.Val22Leu
NM_001171993.1:c.64G>C (HPD) NP_001165464.1:p.Val22Leu
NM_002150.2:c.181G>C (HPD) NP_002141.1:p.Val61Leu
XR_002957437.1:n.324-274C>G (TIALD)
NM_002150.3:c.181G>C (HPD) MANE Select NP_002141.2:p.Val61Leu
NM_001171993.2:c.64G>C (HPD) NP_001165464.1:p.Val22Leu
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