Canonical Allele Identifier: CA6839538
Gene: HPD HGNC NCBI

Linked Data

ClinVar Variation Id: 307483
ClinVar RCV Id: RCV000266360 RCV000305079
dbSNP Id: rs767720774
ExAC: 12:122284834 A / G
gnomAD v2: 12-122284834-A-G
gnomAD v3: 12-121846928-A-G
gnomAD v4: 12-121846928-A-G
MyVariant Identifiers: chr12:g.122284834A>G (hg19) chr12:g.121846928A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121846928A>G , CM000674.2:g.121846928A>G GRCh38
NC_000012.11:g.122284834A>G , CM000674.1:g.122284834A>G GRCh37
NC_000012.10:g.120769217A>G NCBI36
NG_016461.1:g.46684T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000289004.8:c.765T>C MANE Select ENSP00000289004.4:p.Tyr255=
ENST00000543163.5:c.648T>C ENSP00000441677.1:p.Tyr216=
NM_001171993.1:c.648T>C NP_001165464.1:p.Tyr216=
NM_002150.2:c.765T>C NP_002141.1:p.Tyr255=
NM_002150.3:c.765T>C MANE Select NP_002141.2:p.Tyr255=
NM_001171993.2:c.648T>C NP_001165464.1:p.Tyr216=
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