Canonical Allele Identifier: CA2068102554
Gene: HPD HGNC NCBI
TIALD HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121857459C= , CM000674.2:g.121857459C= GRCh38
NC_000012.11:g.122295365C= , CM000674.1:g.122295365C= GRCh37
NC_000012.10:g.120779748C= NCBI36
NG_016461.1:g.36153G=

Transcript Alleles

HGVS Amino-acid change
ENST00000289004.8:c.94-27G= (HPD) MANE Select ENSP00000289004.4:n.94-27G=
ENST00000535114.1:n.423G= (HPD)
ENST00000542159.2:n.125G= (HPD)
ENST00000543163.5:c.-24-27G= (HPD) ENSP00000441677.1:n.-24-27G=
NM_001171993.1:c.-24-27G= (HPD) NP_001165464.1:n.-24-27G=
NM_002150.2:c.94-27G= (HPD) NP_002141.1:n.94-27G=
XR_002957437.1:n.324-160C= (TIALD)
NM_002150.3:c.94-27G= (HPD) MANE Select NP_002141.2:n.94-27G=
NM_001171993.2:c.-24-27G= (HPD) NP_001165464.1:n.-24-27G=
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