Canonical Allele Identifier: CA387012642
Gene: HPD HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.122284800T>C (hg19) chr12:g.121846894T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121846894T>C , CM000674.2:g.121846894T>C GRCh38
NC_000012.11:g.122284800T>C , CM000674.1:g.122284800T>C GRCh37
NC_000012.10:g.120769183T>C NCBI36
NG_016461.1:g.46718A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000289004.8:c.799A>G MANE Select ENSP00000289004.4:p.Ile267Val
ENST00000543163.5:c.682A>G ENSP00000441677.1:p.Ile228Val
NM_001171993.1:c.682A>G NP_001165464.1:p.Ile228Val
NM_002150.2:c.799A>G NP_002141.1:p.Ile267Val
NM_002150.3:c.799A>G MANE Select NP_002141.2:p.Ile267Val
NM_001171993.2:c.682A>G NP_001165464.1:p.Ile228Val
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