Canonical Allele Identifier: CA202452514
Gene: GATA3 HGNC NCBI

Linked Data

dbSNP Id: rs1045637730
gnomAD v2: 10-8089078-G-A
gnomAD v3: 10-8047115-G-A
gnomAD v4: 10-8047115-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8047115G>A , CM000672.2:g.8047115G>A GRCh38
NC_000010.10:g.8089078G>A , CM000672.1:g.8089078G>A GRCh37
NC_000010.9:g.8129084G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000643001.1:c.-370+1600G>A ENSP00000494284.1:n.-370+1600G>A
XM_005252443.3:c.-370+1600G>A XP_005252500.1:n.-370+1600G>A
XM_011519800.1:c.213+76G>A XP_011518102.1:n.213+76G>A
XM_005252443.5:c.-370+1600G>A XP_005252500.1:n.-370+1600G>A