Canonical Allele Identifier: CA387002484
Gene: HPD HGNC NCBI
TIALD HGNC NCBI

Linked Data

gnomAD v4: 12-121857425-G-A
MyVariant Identifiers: chr12:g.122295331G>A (hg19) chr12:g.121857425G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121857425G>A , CM000674.2:g.121857425G>A GRCh38
NC_000012.11:g.122295331G>A , CM000674.1:g.122295331G>A GRCh37
NC_000012.10:g.120779714G>A NCBI36
NG_016461.1:g.36187C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000289004.8:c.101C>T (HPD) MANE Select ENSP00000289004.4:p.Ser34Leu
ENST00000535114.1:n.457C>T (HPD)
ENST00000542159.2:n.159C>T (HPD)
ENST00000543163.5:c.-17C>T (HPD) ENSP00000441677.1:n.-17C>T
NM_001171993.1:c.-17C>T (HPD) NP_001165464.1:n.-17C>T
NM_002150.2:c.101C>T (HPD) NP_002141.1:p.Ser34Leu
XR_002957437.1:n.324-194G>A (TIALD)
NM_002150.3:c.101C>T (HPD) MANE Select NP_002141.2:p.Ser34Leu
NM_001171993.2:c.-17C>T (HPD) NP_001165464.1:n.-17C>T
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