Canonical Allele Identifier: CA591844090
Gene: GATA3 HGNC NCBI

Linked Data

dbSNP Id: rs1316709967
gnomAD v2: 10-8097886-C-G
gnomAD v3: 10-8055923-C-G
gnomAD v4: 10-8055923-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8055923C>G , CM000672.2:g.8055923C>G GRCh38
NC_000010.10:g.8097886C>G , CM000672.1:g.8097886C>G GRCh37
NC_000010.9:g.8137892C>G NCBI36
NG_015859.1:g.6220C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.241+27C>G ENSP00000341619.3:n.241+27C>G
ENST00000379328.9:c.241+27C>G MANE Select ENSP00000368632.3:n.241+27C>G
ENST00000481743.2:c.241+27C>G ENSP00000493486.1:n.241+27C>G
ENST00000346208.3:c.241+27C>G ENSP00000341619.3:n.241+27C>G
ENST00000379328.7:c.241+27C>G ENSP00000368632.3:n.241+27C>G
NM_001002295.1:c.241+27C>G NP_001002295.1:n.241+27C>G
NM_002051.2:c.241+27C>G NP_002042.1:n.241+27C>G
XM_005252442.2:c.241+27C>G XP_005252499.1:n.241+27C>G
XM_005252443.3:c.241+27C>G XP_005252500.1:n.241+27C>G
XM_005252443.5:c.241+27C>G XP_005252500.1:n.241+27C>G
XR_001747358.1:n.617+843G>C
NM_001002295.2:c.241+27C>G MANE Select NP_001002295.1:n.241+27C>G
NM_002051.3:c.241+27C>G NP_002042.1:n.241+27C>G