Canonical Allele Identifier: CA482193324
Gene: HPD HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.122284831C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121846925C>T , CM000674.2:g.121846925C>T GRCh38
NC_000012.11:g.122284831C>T , CM000674.1:g.122284831C>T GRCh37
NC_000012.10:g.120769214C>T NCBI36
NG_016461.1:g.46687G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000289004.8:c.768G>A MANE Select ENSP00000289004.4:p.Val256=
ENST00000543163.5:c.651G>A ENSP00000441677.1:p.Val217=
NM_001171993.1:c.651G>A NP_001165464.1:p.Val217=
NM_002150.2:c.768G>A NP_002141.1:p.Val256=
NM_002150.3:c.768G>A MANE Select NP_002141.2:p.Val256=
NM_001171993.2:c.651G>A NP_001165464.1:p.Val217=
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