Canonical Allele Identifier: CA202464120
Gene: GATA3 HGNC NCBI

Linked Data

dbSNP Id: rs962783117
gnomAD v2: 10-8115678-A-C
gnomAD v4: 10-8073715-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8073715A>C , CM000672.2:g.8073715A>C GRCh38
NC_000010.10:g.8115678A>C , CM000672.1:g.8115678A>C GRCh37
NC_000010.9:g.8155684A>C NCBI36
NG_015859.1:g.24012A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.1048-24A>C ENSP00000341619.3:n.1048-24A>C
ENST00000379328.9:c.1051-24A>C MANE Select ENSP00000368632.3:n.1051-24A>C
ENST00000346208.3:c.1048-24A>C ENSP00000341619.3:n.1048-24A>C
ENST00000379328.7:c.1051-24A>C ENSP00000368632.3:n.1051-24A>C
ENST00000461472.1:n.570-24A>C
NM_001002295.1:c.1051-24A>C NP_001002295.1:n.1051-24A>C
NM_002051.2:c.1048-24A>C NP_002042.1:n.1048-24A>C
XM_005252442.2:c.1051-24A>C XP_005252499.1:n.1051-24A>C
XM_005252443.3:c.1051-24A>C XP_005252500.1:n.1051-24A>C
XM_005252443.5:c.1051-24A>C XP_005252500.1:n.1051-24A>C
NM_001002295.2:c.1051-24A>C MANE Select NP_001002295.1:n.1051-24A>C
NM_002051.3:c.1048-24A>C NP_002042.1:n.1048-24A>C