Canonical Allele Identifier: CA684565420
Gene: HPD HGNC NCBI

Linked Data

dbSNP Id: rs1464943291
gnomAD v4: 12-121847002-C-T
MyVariant Identifiers: chr12:g.122284908C>T (hg19) chr12:g.121847002C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121847002C>T , CM000674.2:g.121847002C>T GRCh38
NC_000012.11:g.122284908C>T , CM000674.1:g.122284908C>T GRCh37
NC_000012.10:g.120769291C>T NCBI36
NG_016461.1:g.46610G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000289004.8:c.759+50G>A MANE Select ENSP00000289004.4:n.759+50G>A
ENST00000543163.5:c.642+50G>A ENSP00000441677.1:n.642+50G>A
NM_001171993.1:c.642+50G>A NP_001165464.1:n.642+50G>A
NM_002150.2:c.759+50G>A NP_002141.1:n.759+50G>A
NM_002150.3:c.759+50G>A MANE Select NP_002141.2:n.759+50G>A
NM_001171993.2:c.642+50G>A NP_001165464.1:n.642+50G>A
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