Canonical Allele Identifier: CA5404431
Gene: GATA3 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.8058769C>G
GRCh37 chr10:g.8100732C>G
Revel Score:
ENST00000379328 (MANE Select) 0.646
ENST00000346208 0.646
gnomAD v2:
10:8100732 C / G
gnomAD v3:
10:8058769 C / G
gnomAD v4:
chr10-8058769-C-G
Joint Max Group AF 0.00029503 (EAS)
Genomes Max Group AF 0.00026541 (EAS)
Exomes Max Group AF 0.00025249 (EAS)
ClinVar RCV:
RCV000386611
RCV001859789
ClinVar Variation:
301124
dbSNP:
148835259
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8058769C>G , CM000672.2:g.8058769C>G GRCh38
NC_000010.10:g.8100732C>G , CM000672.1:g.8100732C>G GRCh37
NC_000010.9:g.8140738C>G NCBI36
NG_015859.1:g.9066C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.706C>G ENSP00000341619.3:p.Pro236Ala
ENST00000379328.9:c.706C>G MANE Select ENSP00000368632.3:p.Pro236Ala
ENST00000346208.3:c.706C>G ENSP00000341619.3:p.Pro236Ala
ENST00000379328.7:c.706C>G ENSP00000368632.3:p.Pro236Ala
ENST00000461472.1:n.371C>G
NM_001002295.1:c.706C>G NP_001002295.1:p.Pro236Ala
NM_002051.2:c.706C>G NP_002042.1:p.Pro236Ala
XM_005252442.2:c.706C>G XP_005252499.1:p.Pro236Ala
XM_005252443.3:c.706C>G XP_005252500.1:p.Pro236Ala
XM_005252443.5:c.706C>G XP_005252500.1:p.Pro236Ala
NM_001002295.2:c.706C>G MANE Select NP_001002295.1:p.Pro236Ala
NM_002051.3:c.706C>G NP_002042.1:p.Pro236Ala
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