Canonical Allele Identifier: CA6839555
Gene: HPD HGNC NCBI

Linked Data

dbSNP Id: rs754746303
ExAC: 12:122284926 C / G
gnomAD v2: 12-122284926-C-G
gnomAD v4: 12-121847020-C-G
MyVariant Identifiers: chr12:g.122284926C>G (hg19) chr12:g.121847020C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121847020C>G , CM000674.2:g.121847020C>G GRCh38
NC_000012.11:g.122284926C>G , CM000674.1:g.122284926C>G GRCh37
NC_000012.10:g.120769309C>G NCBI36
NG_016461.1:g.46592G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000289004.8:c.759+32G>C MANE Select ENSP00000289004.4:n.759+32G>C
ENST00000543163.5:c.642+32G>C ENSP00000441677.1:n.642+32G>C
NM_001171993.1:c.642+32G>C NP_001165464.1:n.642+32G>C
NM_002150.2:c.759+32G>C NP_002141.1:n.759+32G>C
NM_002150.3:c.759+32G>C MANE Select NP_002141.2:n.759+32G>C
NM_001171993.2:c.642+32G>C NP_001165464.1:n.642+32G>C
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