Canonical Allele Identifier: CA387002365
Gene: HPD HGNC NCBI
TIALD HGNC NCBI

Linked Data

dbSNP Id: rs1878043472
MyVariant Identifiers: chr12:g.122295312C>T (hg19) chr12:g.121857406C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121857406C>T , CM000674.2:g.121857406C>T GRCh38
NC_000012.11:g.122295312C>T , CM000674.1:g.122295312C>T GRCh37
NC_000012.10:g.120779695C>T NCBI36
NG_016461.1:g.36206G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000289004.8:c.120G>A (HPD) MANE Select ENSP00000289004.4:p.Met40Ile
ENST00000535114.1:n.476G>A (HPD)
ENST00000542159.2:n.178G>A (HPD)
ENST00000543163.5:c.3G>A (HPD) ENSP00000441677.1:p.Met1Ile
NM_001171993.1:c.3G>A (HPD) NP_001165464.1:p.Met1Ile
NM_002150.2:c.120G>A (HPD) NP_002141.1:p.Met40Ile
XR_002957437.1:n.324-213C>T (TIALD)
NM_002150.3:c.120G>A (HPD) MANE Select NP_002141.2:p.Met40Ile
NM_001171993.2:c.3G>A (HPD) NP_001165464.1:p.Met1Ile
Search 100 bp 5'
Search 100 bp 3'