Canonical Allele Identifier: CA375970667
Gene: GATA3 HGNC NCBI

Linked Data

dbSNP Id: rs199565632
gnomAD v3: 10-8058765-C-G
gnomAD v4: 10-8058765-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8058765C>G , CM000672.2:g.8058765C>G GRCh38
NC_000010.10:g.8100728C>G , CM000672.1:g.8100728C>G GRCh37
NC_000010.9:g.8140734C>G NCBI36
NG_015859.1:g.9062C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.702C>G ENSP00000341619.3:p.Phe234Leu
ENST00000379328.9:c.702C>G MANE Select ENSP00000368632.3:p.Phe234Leu
ENST00000346208.3:c.702C>G ENSP00000341619.3:p.Phe234Leu
ENST00000379328.7:c.702C>G ENSP00000368632.3:p.Phe234Leu
ENST00000461472.1:n.367C>G
NM_001002295.1:c.702C>G NP_001002295.1:p.Phe234Leu
NM_002051.2:c.702C>G NP_002042.1:p.Phe234Leu
XM_005252442.2:c.702C>G XP_005252499.1:p.Phe234Leu
XM_005252443.3:c.702C>G XP_005252500.1:p.Phe234Leu
XM_005252443.5:c.702C>G XP_005252500.1:p.Phe234Leu
NM_001002295.2:c.702C>G MANE Select NP_001002295.1:p.Phe234Leu
NM_002051.3:c.702C>G NP_002042.1:p.Phe234Leu