Canonical Allele Identifier: CA6839814
Gene: HPD HGNC NCBI
TIALD HGNC NCBI
COSMIC:
COSM3736057 (not active)
MyVariant.info:
GRCh38 chr12:g.121857429T>C
GRCh37 chr12:g.122295335T>C
Revel Score:
ENST00000289004 (MANE Select) 0.192
ENST00000545969 0.192
gnomAD v2:
12:122295335 T / C
gnomAD v3:
12:121857429 T / C
gnomAD v4:
chr12-121857429-T-C
Joint Max Group AF 0.95650381 (AFR)
Genomes Max Group AF 0.95211648 (AFR)
Exomes Max Group AF 0.95652772 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121857429T>C , CM000674.2:g.121857429T>C GRCh38
NC_000012.11:g.122295335T>C , CM000674.1:g.122295335T>C GRCh37
NC_000012.10:g.120779718T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000289004.8:c.97A>G (HPD) MANE Select ENSP00000289004.4:p.Thr33Ala
ENST00000535114.1:n.453A>G (HPD)
ENST00000542159.2:n.155A>G (HPD)
ENST00000543163.5:c.-21A>G (HPD) ENSP00000441677.1:n.-21A>G
XR_002957437.1:n.324-190T>C (TIALD)
NM_002150.3:c.97A>G (HPD) MANE Select NP_002141.2:p.Thr33Ala
NM_001171993.2:c.-21A>G (HPD) NP_001165464.1:n.-21A>G
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