Canonical Allele Identifier: CA2575327689
Gene: HPD HGNC NCBI
TIALD HGNC NCBI

Linked Data

gnomAD v4: 12-121857457-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121857457T>C , CM000674.2:g.121857457T>C GRCh38
NC_000012.11:g.122295363T>C , CM000674.1:g.122295363T>C GRCh37
NC_000012.10:g.120779746T>C NCBI36
NG_016461.1:g.36155A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000289004.8:c.94-25A>G (HPD) MANE Select ENSP00000289004.4:n.94-25A>G
ENST00000535114.1:n.425A>G (HPD)
ENST00000542159.2:n.127A>G (HPD)
ENST00000543163.5:c.-24-25A>G (HPD) ENSP00000441677.1:n.-24-25A>G
NM_001171993.1:c.-24-25A>G (HPD) NP_001165464.1:n.-24-25A>G
NM_002150.2:c.94-25A>G (HPD) NP_002141.1:n.94-25A>G
XR_002957437.1:n.324-162T>C (TIALD)
NM_002150.3:c.94-25A>G (HPD) MANE Select NP_002141.2:n.94-25A>G
NM_001171993.2:c.-24-25A>G (HPD) NP_001165464.1:n.-24-25A>G
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