Canonical Allele Identifier: CA5021704
Gene: TAF1L HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.32634115T>G
GRCh37 chr9:g.32634113T>G
Revel Score:
ENST00000242310 (MANE Select) 0.082
gnomAD v2:
9:32634113 T / G
gnomAD v3:
9:32634115 T / G
gnomAD v4:
chr9-32634115-T-G
Joint Max Group AF 0.00011522 (AMR)
Genomes Max Group AF 0.00012863 (AMR)
Exomes Max Group AF 0.00007281 (AMR)
ClinVar RCV:
RCV004077259
ClinVar Variation:
2210724
dbSNP:
574024094
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.32634115T>G , CM000671.2:g.32634115T>G GRCh38
NC_000009.11:g.32634113T>G , CM000671.1:g.32634113T>G GRCh37
NC_000009.10:g.32624113T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000242310.4:c.1465A>C MANE Select ENSP00000418379.1:p.Ile489Leu
NM_153809.2:c.1465A>C MANE Select NP_722516.1:p.Ile489Leu
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