Canonical Allele Identifier: CA468400619
Gene: GATA3 HGNC NCBI

Linked Data

dbSNP Id: rs104894165
gnomAD v2: 10-8115710-A-G
gnomAD v4: 10-8073747-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8073747A>G , CM000672.2:g.8073747A>G GRCh38
NC_000010.10:g.8115710A>G , CM000672.1:g.8115710A>G GRCh37
NC_000010.9:g.8155716A>G NCBI36
NG_015859.1:g.24044A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000346208.4:c.1056A>G ENSP00000341619.3:p.Arg352=
ENST00000379328.9:c.1059A>G MANE Select ENSP00000368632.3:p.Arg353=
ENST00000346208.3:c.1056A>G ENSP00000341619.3:p.Arg352=
ENST00000379328.7:c.1059A>G ENSP00000368632.3:p.Arg353=
ENST00000461472.1:n.578A>G
NM_001002295.1:c.1059A>G NP_001002295.1:p.Arg353=
NM_002051.2:c.1056A>G NP_002042.1:p.Arg352=
XM_005252442.2:c.1059A>G XP_005252499.1:p.Arg353=
XM_005252443.3:c.1059A>G XP_005252500.1:p.Arg353=
XM_005252443.5:c.1059A>G XP_005252500.1:p.Arg353=
NM_001002295.2:c.1059A>G MANE Select NP_001002295.1:p.Arg353=
NM_002051.3:c.1056A>G NP_002042.1:p.Arg352=