Canonical Allele Identifier: CA375969295
Gene: GATA3 HGNC NCBI

Linked Data

dbSNP Id: rs1588378304
gnomAD v3: 10-8058610-T-G
gnomAD v4: 10-8058610-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8058610T>G , CM000672.2:g.8058610T>G GRCh38
NC_000010.10:g.8100573T>G , CM000672.1:g.8100573T>G GRCh37
NC_000010.9:g.8140579T>G NCBI36
NG_015859.1:g.8907T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.547T>G ENSP00000341619.3:p.Cys183Gly
ENST00000379328.9:c.547T>G MANE Select ENSP00000368632.3:p.Cys183Gly
ENST00000346208.3:c.547T>G ENSP00000341619.3:p.Cys183Gly
ENST00000379328.7:c.547T>G ENSP00000368632.3:p.Cys183Gly
ENST00000461472.1:n.212T>G
NM_001002295.1:c.547T>G NP_001002295.1:p.Cys183Gly
NM_002051.2:c.547T>G NP_002042.1:p.Cys183Gly
XM_005252442.2:c.547T>G XP_005252499.1:p.Cys183Gly
XM_005252443.3:c.547T>G XP_005252500.1:p.Cys183Gly
XM_005252443.5:c.547T>G XP_005252500.1:p.Cys183Gly
NM_001002295.2:c.547T>G MANE Select NP_001002295.1:p.Cys183Gly
NM_002051.3:c.547T>G NP_002042.1:p.Cys183Gly