Canonical Allele Identifier: CA15193951
Gene: USP34 HGNC NCBI
dbSNP:
10208769
gnomAD v2:
2:61605614 T / A
gnomAD v3:
2:61378479 T / A
gnomAD v4:
chr2-61378479-T-A
Joint Max Group AF 0.72248314 (SAS)
Genomes Max Group AF 0.7133227 (SAS)
Exomes Max Group AF 0.7218868 (SAS)
MyVariant.info:
GRCh38 chr2:g.61378479T>A
GRCh37 chr2:g.61605614T>A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.61378479T>A , CM000664.2:g.61378479T>A GRCh38
NC_000002.11:g.61605614T>A , CM000664.1:g.61605614T>A GRCh37
NC_000002.10:g.61459118T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000398571.7:c.1015-55A>T MANE Select ENSP00000381577.2:n.1015-55A>T
ENST00000398571.6:c.1015-55A>T ENSP00000381577.2:n.1015-55A>T
ENST00000453133.1:c.541-55A>T
NM_014709.3:c.1015-55A>T NP_055524.3:n.1015-55A>T
NM_014709.4:c.1015-55A>T MANE Select NP_055524.3:n.1015-55A>T
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