Canonical Allele Identifier: CA482174887
Gene: HPD HGNC NCBI
TIALD HGNC NCBI

Linked Data

gnomAD v4: 12-121857346-A-G
MyVariant Identifiers: chr12:g.122295252A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121857346A>G , CM000674.2:g.121857346A>G GRCh38
NC_000012.11:g.122295252A>G , CM000674.1:g.122295252A>G GRCh37
NC_000012.10:g.120779635A>G NCBI36
NG_016461.1:g.36266T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000289004.8:c.180T>C (HPD) MANE Select ENSP00000289004.4:p.His60=
ENST00000535114.1:n.536T>C (HPD)
ENST00000542159.2:n.238T>C (HPD)
ENST00000543163.5:c.63T>C (HPD) ENSP00000441677.1:p.His21=
NM_001171993.1:c.63T>C (HPD) NP_001165464.1:p.His21=
NM_002150.2:c.180T>C (HPD) NP_002141.1:p.His60=
XR_002957437.1:n.324-273A>G (TIALD)
NM_002150.3:c.180T>C (HPD) MANE Select NP_002141.2:p.His60=
NM_001171993.2:c.63T>C (HPD) NP_001165464.1:p.His21=
Search 100 bp 5'
Search 100 bp 3'