Canonical Allele Identifier: CA375973713
Community Standard Title: NM_001002295.2(GATA3):c.896G>T (p.Arg299Leu)
Gene: GATA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8064110G>T , CM000672.2:g.8064110G>T GRCh38
NC_000010.10:g.8106073G>T , CM000672.1:g.8106073G>T GRCh37
NC_000010.9:g.8146079G>T NCBI36
NG_015859.1:g.14407G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001002295.2:c.896G>T MANE Select NP_001002295.1:p.Arg299Leu
ENST00000379328.9:c.896G>T MANE Select ENSP00000368632.3:p.Arg299Leu
NM_001002295.1:c.896G>T NP_001002295.1:p.Arg299Leu
NM_002051.2:c.893G>T NP_002042.1:p.Arg298Leu
NM_002051.3:c.893G>T NP_002042.1:p.Arg298Leu
ENST00000346208.3:c.893G>T ENSP00000341619.3:p.Arg298Leu
ENST00000346208.4:c.893G>T ENSP00000341619.3:p.Arg298Leu
ENST00000379328.7:c.896G>T ENSP00000368632.3:p.Arg299Leu
ENST00000461472.1:n.443+5269G>T
XM_005252442.2:c.896G>T XP_005252499.1:p.Arg299Leu
XM_005252443.3:c.896G>T XP_005252500.1:p.Arg299Leu
XM_005252443.5:c.896G>T XP_005252500.1:p.Arg299Leu