Canonical Allele Identifier: CA375975577
Gene: GATA3 HGNC NCBI

Linked Data

dbSNP Id: rs2131520675

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8073811A>T , CM000672.2:g.8073811A>T GRCh38
NC_000010.10:g.8115774A>T , CM000672.1:g.8115774A>T GRCh37
NC_000010.9:g.8155780A>T NCBI36
NG_015859.1:g.24108A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.1120A>T ENSP00000341619.3:p.Lys374Ter
ENST00000379328.9:c.1123A>T MANE Select ENSP00000368632.3:p.Lys375Ter
ENST00000346208.3:c.1120A>T ENSP00000341619.3:p.Lys374Ter
ENST00000379328.7:c.1123A>T ENSP00000368632.3:p.Lys375Ter
ENST00000461472.1:n.642A>T
NM_001002295.1:c.1123A>T NP_001002295.1:p.Lys375Ter
NM_002051.2:c.1120A>T NP_002042.1:p.Lys374Ter
XM_005252442.2:c.1123A>T XP_005252499.1:p.Lys375Ter
XM_005252443.3:c.1123A>T XP_005252500.1:p.Lys375Ter
XM_005252443.5:c.1123A>T XP_005252500.1:p.Lys375Ter
NM_001002295.2:c.1123A>T MANE Select NP_001002295.1:p.Lys375Ter
NM_002051.3:c.1120A>T NP_002042.1:p.Lys374Ter