Canonical Allele Identifier: CA375975304
Gene: GATA3 HGNC NCBI

Linked Data

dbSNP Id: rs2131520001

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8073751C>G , CM000672.2:g.8073751C>G GRCh38
NC_000010.10:g.8115714C>G , CM000672.1:g.8115714C>G GRCh37
NC_000010.9:g.8155720C>G NCBI36
NG_015859.1:g.24048C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000346208.4:c.1060C>G ENSP00000341619.3:p.Leu354Val
ENST00000379328.9:c.1063C>G MANE Select ENSP00000368632.3:p.Leu355Val
ENST00000346208.3:c.1060C>G ENSP00000341619.3:p.Leu354Val
ENST00000379328.7:c.1063C>G ENSP00000368632.3:p.Leu355Val
ENST00000461472.1:n.582C>G
NM_001002295.1:c.1063C>G NP_001002295.1:p.Leu355Val
NM_002051.2:c.1060C>G NP_002042.1:p.Leu354Val
XM_005252442.2:c.1063C>G XP_005252499.1:p.Leu355Val
XM_005252443.3:c.1063C>G XP_005252500.1:p.Leu355Val
XM_005252443.5:c.1063C>G XP_005252500.1:p.Leu355Val
NM_001002295.2:c.1063C>G MANE Select NP_001002295.1:p.Leu355Val
NM_002051.3:c.1060C>G NP_002042.1:p.Leu354Val