Canonical Allele Identifier: CA3466248
Gene: TAF7 HGNC NCBI
SLC25A2 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.141303324A>C
GRCh37 chr5:g.140682891A>C
Revel Score:
ENST00000239451 (MANE Select) 0.565
gnomAD v2:
5:140682891 A / C
gnomAD v3:
5:141303324 A / C
gnomAD v4:
chr5-141303324-A-C
Joint Max Group AF 0.14840291 (AMR)
Genomes Max Group AF 0.09962234 (AMR)
Exomes Max Group AF 0.1639463 (AMR)
dbSNP:
3749779
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.141303324A>C , CM000667.2:g.141303324A>C GRCh38
NC_000005.9:g.140682891A>C , CM000667.1:g.140682891A>C GRCh37
NC_000005.8:g.140663075A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000686518.1:n.75+17194T>G (TAF7)
ENST00000239451.7:c.542T>G (SLC25A2) MANE Select ENSP00000239451.4:p.Val181Gly
ENST00000239451.6:c.542T>G (SLC25A2) ENSP00000239451.4:p.Val181Gly
ENST00000624699.1:n.128+17194T>G (TAF7)
NM_031947.3:c.542T>G (SLC25A2) NP_114153.1:p.Val181Gly
NM_031947.4:c.542T>G (SLC25A2) MANE Select NP_114153.1:p.Val181Gly
Search 100 bp 5'
Search 100 bp 3'