Canonical Allele Identifier: CA924692030
Gene: GATA3 HGNC NCBI

Linked Data

dbSNP Id: rs995077180
gnomAD v3: 10-8073704-G-T
gnomAD v4: 10-8073704-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8073704G>T , CM000672.2:g.8073704G>T GRCh38
NC_000010.10:g.8115667G>T , CM000672.1:g.8115667G>T GRCh37
NC_000010.9:g.8155673G>T NCBI36
NG_015859.1:g.24001G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.1048-35G>T ENSP00000341619.3:n.1048-35G>T
ENST00000379328.9:c.1051-35G>T MANE Select ENSP00000368632.3:n.1051-35G>T
ENST00000346208.3:c.1048-35G>T ENSP00000341619.3:n.1048-35G>T
ENST00000379328.7:c.1051-35G>T ENSP00000368632.3:n.1051-35G>T
ENST00000461472.1:n.570-35G>T
NM_001002295.1:c.1051-35G>T NP_001002295.1:n.1051-35G>T
NM_002051.2:c.1048-35G>T NP_002042.1:n.1048-35G>T
XM_005252442.2:c.1051-35G>T XP_005252499.1:n.1051-35G>T
XM_005252443.3:c.1051-35G>T XP_005252500.1:n.1051-35G>T
XM_005252443.5:c.1051-35G>T XP_005252500.1:n.1051-35G>T
NM_001002295.2:c.1051-35G>T MANE Select NP_001002295.1:n.1051-35G>T
NM_002051.3:c.1048-35G>T NP_002042.1:n.1048-35G>T