Canonical Allele Identifier: CA6926424
Gene: GTF3A HGNC NCBI
MyVariant.info:
GRCh38 chr13:g.27435165T>A
GRCh37 chr13:g.28009302T>A
Revel Score:
ENST00000381140 (MANE Select) 0.148
ENST00000439403 0.148
gnomAD v2:
13:28009302 T / A
gnomAD v4:
chr13-27435165-T-A
Joint Max Group AF 0.00003454 (AMR)
Exomes Max Group AF 0.0000483 (AMR)
ClinVar RCV:
RCV004232429
ClinVar Variation:
2393018
dbSNP:
757224376
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27435165T>A , CM000675.2:g.27435165T>A GRCh38
NC_000013.10:g.28009302T>A , CM000675.1:g.28009302T>A GRCh37
NC_000013.9:g.26907302T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000381140.10:c.906T>A MANE Select ENSP00000370532.5:p.Asp302Glu
ENST00000381140.8:c.906T>A ENSP00000370532.4:p.Asp302Glu
ENST00000419181.5:c.*265T>A ENSP00000389655.1:n.*265T>A
ENST00000439403.5:c.1080T>A ENSP00000393050.2:p.Asp360Glu
ENST00000470606.5:n.1636T>A
ENST00000482655.2:n.411T>A
NM_002097.2:c.906T>A NP_002088.2:p.Asp302Glu
NM_002097.3:c.906T>A MANE Select NP_002088.2:p.Asp302Glu
Search 100 bp 5'
Search 100 bp 3'