Canonical Allele Identifier: CA13399050
Gene: PHLDB1 HGNC NCBI
gnomAD v2:
11:118477367 A / G
gnomAD v3:
11:118606652 A / G
gnomAD v4:
chr11-118606652-A-G
Joint Max Group AF 0.87848376 (AFR)
Genomes Max Group AF 0.87848543 (AFR)
Exomes Max Group AF 0.61717948 (NFE)
dbSNP:
498872
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118606652A>G , CM000673.2:g.118606652A>G GRCh38
NC_000011.9:g.118477367A>G , CM000673.1:g.118477367A>G GRCh37
NC_000011.8:g.117982577A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000361417.6:c.-199A>G ENSP00000354498.2:n.-199A>G
NM_015157.3:c.-199A>G NP_055972.1:n.-199A>G
XM_011542709.1:c.-42A>G XP_011541011.1:n.-42A>G
XM_011542709.2:c.-42A>G XP_011541011.1:n.-42A>G
NM_015157.4:c.-199A>G NP_055972.1:n.-199A>G
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