Canonical Allele Identifier: CA375975947
Gene: GATA3 HGNC NCBI

Linked Data

dbSNP Id: rs2131522775

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8073977C>T , CM000672.2:g.8073977C>T GRCh38
NC_000010.10:g.8115940C>T , CM000672.1:g.8115940C>T GRCh37
NC_000010.9:g.8155946C>T NCBI36
NG_015859.1:g.24274C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.1286C>T ENSP00000341619.3:p.Ser429Phe
ENST00000379328.9:c.1289C>T MANE Select ENSP00000368632.3:p.Ser430Phe
ENST00000346208.3:c.1286C>T ENSP00000341619.3:p.Ser429Phe
ENST00000379328.7:c.1289C>T ENSP00000368632.3:p.Ser430Phe
ENST00000461472.1:n.808C>T
NM_001002295.1:c.1289C>T NP_001002295.1:p.Ser430Phe
NM_002051.2:c.1286C>T NP_002042.1:p.Ser429Phe
XM_005252442.2:c.1289C>T XP_005252499.1:p.Ser430Phe
XM_005252443.3:c.1289C>T XP_005252500.1:p.Ser430Phe
XM_005252443.5:c.1289C>T XP_005252500.1:p.Ser430Phe
NM_001002295.2:c.1289C>T MANE Select NP_001002295.1:p.Ser430Phe
NM_002051.3:c.1286C>T NP_002042.1:p.Ser429Phe