Canonical Allele Identifier: CA2621466313
Gene: HPD HGNC NCBI

Linked Data

gnomAD v4: 12-121846851-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121846851G>T , CM000674.2:g.121846851G>T GRCh38
NC_000012.11:g.122284757G>T , CM000674.1:g.122284757G>T GRCh37
NC_000012.10:g.120769140G>T NCBI36
NG_016461.1:g.46761C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000289004.8:c.831+11C>A MANE Select ENSP00000289004.4:n.831+11C>A
ENST00000543163.5:c.714+11C>A ENSP00000441677.1:n.714+11C>A
NM_001171993.1:c.714+11C>A NP_001165464.1:n.714+11C>A
NM_002150.2:c.831+11C>A NP_002141.1:n.831+11C>A
NM_002150.3:c.831+11C>A MANE Select NP_002141.2:n.831+11C>A
NM_001171993.2:c.714+11C>A NP_001165464.1:n.714+11C>A
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