Canonical Allele Identifier: CA375970534
Gene: GATA3 HGNC NCBI

Linked Data

dbSNP Id: rs2131490902

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8058749A>T , CM000672.2:g.8058749A>T GRCh38
NC_000010.10:g.8100712A>T , CM000672.1:g.8100712A>T GRCh37
NC_000010.9:g.8140718A>T NCBI36
NG_015859.1:g.9046A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.686A>T ENSP00000341619.3:p.Tyr229Phe
ENST00000379328.9:c.686A>T MANE Select ENSP00000368632.3:p.Tyr229Phe
ENST00000346208.3:c.686A>T ENSP00000341619.3:p.Tyr229Phe
ENST00000379328.7:c.686A>T ENSP00000368632.3:p.Tyr229Phe
ENST00000461472.1:n.351A>T
NM_001002295.1:c.686A>T NP_001002295.1:p.Tyr229Phe
NM_002051.2:c.686A>T NP_002042.1:p.Tyr229Phe
XM_005252442.2:c.686A>T XP_005252499.1:p.Tyr229Phe
XM_005252443.3:c.686A>T XP_005252500.1:p.Tyr229Phe
XM_005252443.5:c.686A>T XP_005252500.1:p.Tyr229Phe
NM_001002295.2:c.686A>T MANE Select NP_001002295.1:p.Tyr229Phe
NM_002051.3:c.686A>T NP_002042.1:p.Tyr229Phe