Canonical Allele Identifier: CA202464563
Gene: GATA3 HGNC NCBI

Linked Data

dbSNP Id: rs532710590
gnomAD v2: 10-8116082-G-A
gnomAD v3: 10-8074119-G-A
gnomAD v4: 10-8074119-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8074119G>A , CM000672.2:g.8074119G>A GRCh38
NC_000010.10:g.8116082G>A , CM000672.1:g.8116082G>A GRCh37
NC_000010.9:g.8156088G>A NCBI36
NG_015859.1:g.24416G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.*96G>A ENSP00000341619.3:n.*96G>A
ENST00000379328.9:c.*96G>A MANE Select ENSP00000368632.3:n.*96G>A
ENST00000346208.3:c.*96G>A ENSP00000341619.3:n.*96G>A
ENST00000379328.7:c.*96G>A ENSP00000368632.3:n.*96G>A
NM_001002295.1:c.*96G>A NP_001002295.1:n.*96G>A
NM_002051.2:c.*96G>A NP_002042.1:n.*96G>A
XM_005252442.2:c.*96G>A XP_005252499.1:n.*96G>A
XM_005252443.3:c.*96G>A XP_005252500.1:n.*96G>A
XM_005252443.5:c.*96G>A XP_005252500.1:n.*96G>A
NM_001002295.2:c.*96G>A MANE Select NP_001002295.1:n.*96G>A
NM_002051.3:c.*96G>A NP_002042.1:n.*96G>A