Canonical Allele Identifier: CA387002209
Gene: HPD HGNC NCBI
TIALD HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.122295284G>C (hg19) chr12:g.121857378G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121857378G>C , CM000674.2:g.121857378G>C GRCh38
NC_000012.11:g.122295284G>C , CM000674.1:g.122295284G>C GRCh37
NC_000012.10:g.120779667G>C NCBI36
NG_016461.1:g.36234C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000289004.8:c.148C>G (HPD) MANE Select ENSP00000289004.4:p.Leu50Val
ENST00000535114.1:n.504C>G (HPD)
ENST00000542159.2:n.206C>G (HPD)
ENST00000543163.5:c.31C>G (HPD) ENSP00000441677.1:p.Leu11Val
NM_001171993.1:c.31C>G (HPD) NP_001165464.1:p.Leu11Val
NM_002150.2:c.148C>G (HPD) NP_002141.1:p.Leu50Val
XR_002957437.1:n.324-241G>C (TIALD)
NM_002150.3:c.148C>G (HPD) MANE Select NP_002141.2:p.Leu50Val
NM_001171993.2:c.31C>G (HPD) NP_001165464.1:p.Leu11Val
Search 100 bp 5'
Search 100 bp 3'