Canonical Allele Identifier: CA668880963
Gene: GATA3 HGNC NCBI

Linked Data

dbSNP Id: rs1370466490
gnomAD v2: 10-8115560-G-A
gnomAD v3: 10-8073597-G-A
gnomAD v4: 10-8073597-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8073597G>A , CM000672.2:g.8073597G>A GRCh38
NC_000010.10:g.8115560G>A , CM000672.1:g.8115560G>A GRCh37
NC_000010.9:g.8155566G>A NCBI36
NG_015859.1:g.23894G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.1048-142G>A ENSP00000341619.3:n.1048-142G>A
ENST00000379328.9:c.1051-142G>A MANE Select ENSP00000368632.3:n.1051-142G>A
ENST00000346208.3:c.1048-142G>A ENSP00000341619.3:n.1048-142G>A
ENST00000379328.7:c.1051-142G>A ENSP00000368632.3:n.1051-142G>A
ENST00000461472.1:n.570-142G>A
NM_001002295.1:c.1051-142G>A NP_001002295.1:n.1051-142G>A
NM_002051.2:c.1048-142G>A NP_002042.1:n.1048-142G>A
XM_005252442.2:c.1051-142G>A XP_005252499.1:n.1051-142G>A
XM_005252443.3:c.1051-142G>A XP_005252500.1:n.1051-142G>A
XM_005252443.5:c.1051-142G>A XP_005252500.1:n.1051-142G>A
NM_001002295.2:c.1051-142G>A MANE Select NP_001002295.1:n.1051-142G>A
NM_002051.3:c.1048-142G>A NP_002042.1:n.1048-142G>A