Canonical Allele Identifier: CA482193262
Gene: HPD HGNC NCBI

Linked Data

gnomAD v4: 12-121846886-G-C
MyVariant Identifiers: chr12:g.122284792G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121846886G>C , CM000674.2:g.121846886G>C GRCh38
NC_000012.11:g.122284792G>C , CM000674.1:g.122284792G>C GRCh37
NC_000012.10:g.120769175G>C NCBI36
NG_016461.1:g.46726C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000289004.8:c.807C>G MANE Select ENSP00000289004.4:p.Leu269=
ENST00000543163.5:c.690C>G ENSP00000441677.1:p.Leu230=
NM_001171993.1:c.690C>G NP_001165464.1:p.Leu230=
NM_002150.2:c.807C>G NP_002141.1:p.Leu269=
NM_002150.3:c.807C>G MANE Select NP_002141.2:p.Leu269=
NM_001171993.2:c.690C>G NP_001165464.1:p.Leu230=
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