Canonical Allele Identifier: CA6839523
Gene: HPD HGNC NCBI

Linked Data

dbSNP Id: rs772253268
ExAC: 12:122284769 G / A
gnomAD v2: 12-122284769-G-A
gnomAD v3: 12-121846863-G-A
gnomAD v4: 12-121846863-G-A
MyVariant Identifiers: chr12:g.122284769G>A (hg19) chr12:g.121846863G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121846863G>A , CM000674.2:g.121846863G>A GRCh38
NC_000012.11:g.122284769G>A , CM000674.1:g.122284769G>A GRCh37
NC_000012.10:g.120769152G>A NCBI36
NG_016461.1:g.46749C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000289004.8:c.830C>T MANE Select ENSP00000289004.4:p.Ala277Val
ENST00000543163.5:c.713C>T ENSP00000441677.1:p.Ala238Val
NM_001171993.1:c.713C>T NP_001165464.1:p.Ala238Val
NM_002150.2:c.830C>T NP_002141.1:p.Ala277Val
NM_002150.3:c.830C>T MANE Select NP_002141.2:p.Ala277Val
NM_001171993.2:c.713C>T NP_001165464.1:p.Ala238Val
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