Canonical Allele Identifier: CA375973553
Community Standard Title: NM_001002295.2(GATA3):c.863G>C (p.Cys288Ser)
Gene: GATA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8064077G>C , CM000672.2:g.8064077G>C GRCh38
NC_000010.10:g.8106040G>C , CM000672.1:g.8106040G>C GRCh37
NC_000010.9:g.8146046G>C NCBI36
NG_015859.1:g.14374G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001002295.2:c.863G>C MANE Select NP_001002295.1:p.Cys288Ser
ENST00000379328.9:c.863G>C MANE Select ENSP00000368632.3:p.Cys288Ser
NM_001002295.1:c.863G>C NP_001002295.1:p.Cys288Ser
NM_002051.2:c.860G>C NP_002042.1:p.Cys287Ser
NM_002051.3:c.860G>C NP_002042.1:p.Cys287Ser
ENST00000346208.3:c.860G>C ENSP00000341619.3:p.Cys287Ser
ENST00000346208.4:c.860G>C ENSP00000341619.3:p.Cys287Ser
ENST00000379328.7:c.863G>C ENSP00000368632.3:p.Cys288Ser
ENST00000461472.1:n.443+5236G>C
XM_005252442.2:c.863G>C XP_005252499.1:p.Cys288Ser
XM_005252443.3:c.863G>C XP_005252500.1:p.Cys288Ser
XM_005252443.5:c.863G>C XP_005252500.1:p.Cys288Ser