Canonical Allele Identifier: CA6839526
Gene: HPD HGNC NCBI

Linked Data

dbSNP Id: rs529795459
ExAC: 12:122284785 C / T
gnomAD v2: 12-122284785-C-T
gnomAD v3: 12-121846879-C-T
gnomAD v4: 12-121846879-C-T
MyVariant Identifiers: chr12:g.122284785C>T (hg19) chr12:g.121846879C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121846879C>T , CM000674.2:g.121846879C>T GRCh38
NC_000012.11:g.122284785C>T , CM000674.1:g.122284785C>T GRCh37
NC_000012.10:g.120769168C>T NCBI36
NG_016461.1:g.46733G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000289004.8:c.814G>A MANE Select ENSP00000289004.4:p.Glu272Lys
ENST00000543163.5:c.697G>A ENSP00000441677.1:p.Glu233Lys
NM_001171993.1:c.697G>A NP_001165464.1:p.Glu233Lys
NM_002150.2:c.814G>A NP_002141.1:p.Glu272Lys
NM_002150.3:c.814G>A MANE Select NP_002141.2:p.Glu272Lys
NM_001171993.2:c.697G>A NP_001165464.1:p.Glu233Lys
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