Canonical Allele Identifier: CA2621466410
Gene: HPD HGNC NCBI

Linked Data

gnomAD v4: 12-121846977-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121846977C>G , CM000674.2:g.121846977C>G GRCh38
NC_000012.11:g.122284883C>G , CM000674.1:g.122284883C>G GRCh37
NC_000012.10:g.120769266C>G NCBI36
NG_016461.1:g.46635G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000289004.8:c.760-44G>C MANE Select ENSP00000289004.4:n.760-44G>C
ENST00000543163.5:c.643-44G>C ENSP00000441677.1:n.643-44G>C
NM_001171993.1:c.643-44G>C NP_001165464.1:n.643-44G>C
NM_002150.2:c.760-44G>C NP_002141.1:n.760-44G>C
NM_002150.3:c.760-44G>C MANE Select NP_002141.2:n.760-44G>C
NM_001171993.2:c.643-44G>C NP_001165464.1:n.643-44G>C
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