Canonical Allele Identifier: CA2727373884
Gene: HPD HGNC NCBI
TIALD HGNC NCBI

Linked Data

dbSNP Id: rs2137633331
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121857468C>T , CM000674.2:g.121857468C>T GRCh38
NC_000012.11:g.122295374C>T , CM000674.1:g.122295374C>T GRCh37
NC_000012.10:g.120779757C>T NCBI36
NG_016461.1:g.36144G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000289004.8:c.94-36G>A (HPD) MANE Select ENSP00000289004.4:n.94-36G>A
ENST00000535114.1:n.414G>A (HPD)
ENST00000542159.2:n.116G>A (HPD)
ENST00000543163.5:c.-24-36G>A (HPD) ENSP00000441677.1:n.-24-36G>A
NM_001171993.1:c.-24-36G>A (HPD) NP_001165464.1:n.-24-36G>A
NM_002150.2:c.94-36G>A (HPD) NP_002141.1:n.94-36G>A
XR_002957437.1:n.324-151C>T (TIALD)
NM_002150.3:c.94-36G>A (HPD) MANE Select NP_002141.2:n.94-36G>A
NM_001171993.2:c.-24-36G>A (HPD) NP_001165464.1:n.-24-36G>A
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