Canonical Allele Identifier: CA6839554
Gene: HPD HGNC NCBI

Linked Data

dbSNP Id: rs538124953
ExAC: 12:122284922 C / T
gnomAD v2: 12-122284922-C-T
gnomAD v3: 12-121847016-C-T
gnomAD v4: 12-121847016-C-T
MyVariant Identifiers: chr12:g.122284922C>T (hg19) chr12:g.121847016C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121847016C>T , CM000674.2:g.121847016C>T GRCh38
NC_000012.11:g.122284922C>T , CM000674.1:g.122284922C>T GRCh37
NC_000012.10:g.120769305C>T NCBI36
NG_016461.1:g.46596G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000289004.8:c.759+36G>A MANE Select ENSP00000289004.4:n.759+36G>A
ENST00000543163.5:c.642+36G>A ENSP00000441677.1:n.642+36G>A
NM_001171993.1:c.642+36G>A NP_001165464.1:n.642+36G>A
NM_002150.2:c.759+36G>A NP_002141.1:n.759+36G>A
NM_002150.3:c.759+36G>A MANE Select NP_002141.2:n.759+36G>A
NM_001171993.2:c.642+36G>A NP_001165464.1:n.642+36G>A
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