Canonical Allele Identifier: CA5404599
Gene: GATA3 HGNC NCBI

Linked Data

dbSNP Id: rs771208286
gnomAD v2: 10-8116015-A-T
gnomAD v3: 10-8074052-A-T
gnomAD v4: 10-8074052-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8074052A>T , CM000672.2:g.8074052A>T GRCh38
NC_000010.10:g.8116015A>T , CM000672.1:g.8116015A>T GRCh37
NC_000010.9:g.8156021A>T NCBI36
NG_015859.1:g.24349A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.*29A>T ENSP00000341619.3:n.*29A>T
ENST00000379328.9:c.*29A>T MANE Select ENSP00000368632.3:n.*29A>T
ENST00000346208.3:c.*29A>T ENSP00000341619.3:n.*29A>T
ENST00000379328.7:c.*29A>T ENSP00000368632.3:n.*29A>T
ENST00000461472.1:n.883A>T
NM_001002295.1:c.*29A>T NP_001002295.1:n.*29A>T
NM_002051.2:c.*29A>T NP_002042.1:n.*29A>T
XM_005252442.2:c.*29A>T XP_005252499.1:n.*29A>T
XM_005252443.3:c.*29A>T XP_005252500.1:n.*29A>T
XM_005252443.5:c.*29A>T XP_005252500.1:n.*29A>T
NM_001002295.2:c.*29A>T MANE Select NP_001002295.1:n.*29A>T
NM_002051.3:c.*29A>T NP_002042.1:n.*29A>T