Canonical Allele Identifier: CA387012562
Gene: HPD HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.122284788T>C (hg19) chr12:g.121846882T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121846882T>C , CM000674.2:g.121846882T>C GRCh38
NC_000012.11:g.122284788T>C , CM000674.1:g.122284788T>C GRCh37
NC_000012.10:g.120769171T>C NCBI36
NG_016461.1:g.46730A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000289004.8:c.811A>G MANE Select ENSP00000289004.4:p.Thr271Ala
ENST00000543163.5:c.694A>G ENSP00000441677.1:p.Thr232Ala
NM_001171993.1:c.694A>G NP_001165464.1:p.Thr232Ala
NM_002150.2:c.811A>G NP_002141.1:p.Thr271Ala
NM_002150.3:c.811A>G MANE Select NP_002141.2:p.Thr271Ala
NM_001171993.2:c.694A>G NP_001165464.1:p.Thr232Ala
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