Canonical Allele Identifier: CA2635788896
Gene: PHF23 HGNC NCBI

Linked Data

gnomAD v4: 17-7239533-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7239533C>G , CM000679.2:g.7239533C>G GRCh38
NC_000017.10:g.7142852C>G , CM000679.1:g.7142852C>G GRCh37
NC_000017.9:g.7083576C>G NCBI36
NG_033038.1:g.12G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000570899.1:c.46+53G>C ENSP00000458416.1:n.46+53G>C
XM_006721576.2:c.46+53G>C XP_006721639.1:n.46+53G>C
XM_024450938.1:c.46+53G>C XP_024306706.1:n.46+53G>C
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