Canonical Allele Identifier: CA375975653
Gene: GATA3 HGNC NCBI

Linked Data

dbSNP Id: rs2131521140
gnomAD v4: 10-8073843-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8073843C>G , CM000672.2:g.8073843C>G GRCh38
NC_000010.10:g.8115806C>G , CM000672.1:g.8115806C>G GRCh37
NC_000010.9:g.8155812C>G NCBI36
NG_015859.1:g.24140C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.1152C>G ENSP00000341619.3:p.Asp384Glu
ENST00000379328.9:c.1155C>G MANE Select ENSP00000368632.3:p.Asp385Glu
ENST00000346208.3:c.1152C>G ENSP00000341619.3:p.Asp384Glu
ENST00000379328.7:c.1155C>G ENSP00000368632.3:p.Asp385Glu
ENST00000461472.1:n.674C>G
NM_001002295.1:c.1155C>G NP_001002295.1:p.Asp385Glu
NM_002051.2:c.1152C>G NP_002042.1:p.Asp384Glu
XM_005252442.2:c.1155C>G XP_005252499.1:p.Asp385Glu
XM_005252443.3:c.1155C>G XP_005252500.1:p.Asp385Glu
XM_005252443.5:c.1155C>G XP_005252500.1:p.Asp385Glu
NM_001002295.2:c.1155C>G MANE Select NP_001002295.1:p.Asp385Glu
NM_002051.3:c.1152C>G NP_002042.1:p.Asp384Glu