Canonical Allele Identifier: CA482193286
Gene: HPD HGNC NCBI

Linked Data

gnomAD v4: 12-121846904-C-G
MyVariant Identifiers: chr12:g.122284810C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121846904C>G , CM000674.2:g.121846904C>G GRCh38
NC_000012.11:g.122284810C>G , CM000674.1:g.122284810C>G GRCh37
NC_000012.10:g.120769193C>G NCBI36
NG_016461.1:g.46708G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000289004.8:c.789G>C MANE Select ENSP00000289004.4:p.Gly263=
ENST00000543163.5:c.672G>C ENSP00000441677.1:p.Gly224=
NM_001171993.1:c.672G>C NP_001165464.1:p.Gly224=
NM_002150.2:c.789G>C NP_002141.1:p.Gly263=
NM_002150.3:c.789G>C MANE Select NP_002141.2:p.Gly263=
NM_001171993.2:c.672G>C NP_001165464.1:p.Gly224=
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