Canonical Allele Identifier: CA387012730
Gene: HPD HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.122284809C>G (hg19) chr12:g.121846903C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121846903C>G , CM000674.2:g.121846903C>G GRCh38
NC_000012.11:g.122284809C>G , CM000674.1:g.122284809C>G GRCh37
NC_000012.10:g.120769192C>G NCBI36
NG_016461.1:g.46709G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000289004.8:c.790G>C MANE Select ENSP00000289004.4:p.Val264Leu
ENST00000543163.5:c.673G>C ENSP00000441677.1:p.Val225Leu
NM_001171993.1:c.673G>C NP_001165464.1:p.Val225Leu
NM_002150.2:c.790G>C NP_002141.1:p.Val264Leu
NM_002150.3:c.790G>C MANE Select NP_002141.2:p.Val264Leu
NM_001171993.2:c.673G>C NP_001165464.1:p.Val225Leu
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