Canonical Allele Identifier: CA2786559131
Gene: GATA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8058770_8058771dup , CM000672.2:g.8058770_8058771dup GRCh38
NC_000010.10:g.8100733_8100734dup , CM000672.1:g.8100733_8100734dup GRCh37
NC_000010.9:g.8140739_8140740dup NCBI36
NG_015859.1:g.9067_9068dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.707_708dup ENSP00000341619.3:p.Ser237ProfsTer29
ENST00000379328.9:c.707_708dup MANE Select ENSP00000368632.3:p.Ser237ProfsTer30
ENST00000346208.3:c.707_708dup ENSP00000341619.3:p.Ser237ProfsTer29
ENST00000379328.7:c.707_708dup ENSP00000368632.3:p.Ser237ProfsTer30
ENST00000461472.1:n.372_373dup
NM_001002295.1:c.707_708dup NP_001002295.1:p.Ser237ProfsTer30
NM_002051.2:c.707_708dup NP_002042.1:p.Ser237ProfsTer29
XM_005252442.2:c.707_708dup XP_005252499.1:p.Ser237ProfsTer30
XM_005252443.3:c.707_708dup XP_005252500.1:p.Ser237ProfsTer30
XM_005252443.5:c.707_708dup XP_005252500.1:p.Ser237ProfsTer30
NM_001002295.2:c.707_708dup MANE Select NP_001002295.1:p.Ser237ProfsTer30
NM_002051.3:c.707_708dup NP_002042.1:p.Ser237ProfsTer29