Canonical Allele Identifier: CA375973544
Community Standard Title: NM_001002295.2(GATA3):c.859G>A (p.Ala287Thr)
Gene: GATA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8064073G>A , CM000672.2:g.8064073G>A GRCh38
NC_000010.10:g.8106036G>A , CM000672.1:g.8106036G>A GRCh37
NC_000010.9:g.8146042G>A NCBI36
NG_015859.1:g.14370G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001002295.2:c.859G>A MANE Select NP_001002295.1:p.Ala287Thr
ENST00000379328.9:c.859G>A MANE Select ENSP00000368632.3:p.Ala287Thr
NM_001002295.1:c.859G>A NP_001002295.1:p.Ala287Thr
NM_002051.2:c.856G>A NP_002042.1:p.Ala286Thr
NM_002051.3:c.856G>A NP_002042.1:p.Ala286Thr
ENST00000346208.3:c.856G>A ENSP00000341619.3:p.Ala286Thr
ENST00000346208.4:c.856G>A ENSP00000341619.3:p.Ala286Thr
ENST00000379328.7:c.859G>A ENSP00000368632.3:p.Ala287Thr
ENST00000461472.1:n.443+5232G>A
XM_005252442.2:c.859G>A XP_005252499.1:p.Ala287Thr
XM_005252443.3:c.859G>A XP_005252500.1:p.Ala287Thr
XM_005252443.5:c.859G>A XP_005252500.1:p.Ala287Thr