Canonical Allele Identifier: CA375965704
Gene: GATA3 HGNC NCBI

Linked Data

gnomAD v4: 10-8055893-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8055893C>T , CM000672.2:g.8055893C>T GRCh38
NC_000010.10:g.8097856C>T , CM000672.1:g.8097856C>T GRCh37
NC_000010.9:g.8137862C>T NCBI36
NG_015859.1:g.6190C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.238C>T ENSP00000341619.3:p.His80Tyr
ENST00000379328.9:c.238C>T MANE Select ENSP00000368632.3:p.His80Tyr
ENST00000481743.2:c.238C>T ENSP00000493486.1:p.His80Tyr
ENST00000643001.1:c.238C>T ENSP00000494284.1:p.His80Tyr
ENST00000346208.3:c.238C>T ENSP00000341619.3:p.His80Tyr
ENST00000379328.7:c.238C>T ENSP00000368632.3:p.His80Tyr
NM_001002295.1:c.238C>T NP_001002295.1:p.His80Tyr
NM_002051.2:c.238C>T NP_002042.1:p.His80Tyr
XM_005252442.2:c.238C>T XP_005252499.1:p.His80Tyr
XM_005252443.3:c.238C>T XP_005252500.1:p.His80Tyr
XM_005252443.5:c.238C>T XP_005252500.1:p.His80Tyr
XR_001747358.1:n.617+873G>A
NM_001002295.2:c.238C>T MANE Select NP_001002295.1:p.His80Tyr
NM_002051.3:c.238C>T NP_002042.1:p.His80Tyr