Canonical Allele Identifier: CA387012766
Gene: HPD HGNC NCBI

Linked Data

dbSNP Id: rs756810403
gnomAD v3: 12-121846909-C-A
gnomAD v4: 12-121846909-C-A
MyVariant Identifiers: chr12:g.122284815C>A (hg19) chr12:g.121846909C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121846909C>A , CM000674.2:g.121846909C>A GRCh38
NC_000012.11:g.122284815C>A , CM000674.1:g.122284815C>A GRCh37
NC_000012.10:g.120769198C>A NCBI36
NG_016461.1:g.46703G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000289004.8:c.784G>T MANE Select ENSP00000289004.4:p.Ala262Ser
ENST00000543163.5:c.667G>T ENSP00000441677.1:p.Ala223Ser
NM_001171993.1:c.667G>T NP_001165464.1:p.Ala223Ser
NM_002150.2:c.784G>T NP_002141.1:p.Ala262Ser
NM_002150.3:c.784G>T MANE Select NP_002141.2:p.Ala262Ser
NM_001171993.2:c.667G>T NP_001165464.1:p.Ala223Ser
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