Canonical Allele Identifier: CA10770958
Gene: USP24 HGNC NCBI
COSMIC:
COSN6460344 (not active)
MyVariant.info:
GRCh38 chr1:g.55067069G>C
GRCh37 chr1:g.55532742G>C
gnomAD v2:
1:55532742 G / C
gnomAD v3:
1:55067069 G / C
gnomAD v4:
chr1-55067069-G-C
Joint Max Group AF 0.93903438 (EAS)
Genomes Max Group AF 0.93903438 (EAS)
Exomes Max Group AF 0.46952186 (NFE)
dbSNP:
13312
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55067069G>C , CM000663.2:g.55067069G>C GRCh38
NC_000001.10:g.55532742G>C , CM000663.1:g.55532742G>C GRCh37
NC_000001.9:g.55305330G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000294383.7:c.*1976C>G MANE Select ENSP00000294383.5:n.*1976C>G
ENST00000294383.6:c.9839C>G ENSP00000294383.5:n.9839C>G
NM_015306.2:c.*1976C>G NP_056121.2:n.*1976C>G
XM_005270690.2:c.*1976C>G XP_005270747.1:n.*1976C>G
XM_006710511.2:c.*1976C>G XP_006710574.2:n.*1976C>G
XM_011541122.1:c.*2080C>G XP_011539424.1:n.*2080C>G
XM_005270690.3:c.*1976C>G XP_005270747.1:n.*1976C>G
XM_017000831.1:c.*1976C>G XP_016856320.1:n.*1976C>G
XM_017000832.1:c.*1976C>G XP_016856321.1:n.*1976C>G
XM_017000833.1:c.*1976C>G XP_016856322.1:n.*1976C>G
XM_017000834.1:c.*1976C>G XP_016856323.1:n.*1976C>G
NM_015306.3:c.*1976C>G MANE Select NP_056121.2:n.*1976C>G
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