Canonical Allele Identifier: CA375970189
Gene: GATA3 HGNC NCBI

Linked Data

dbSNP Id: rs1474106412
gnomAD v2: 10-8100670-C-T
gnomAD v4: 10-8058707-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8058707C>T , CM000672.2:g.8058707C>T GRCh38
NC_000010.10:g.8100670C>T , CM000672.1:g.8100670C>T GRCh37
NC_000010.9:g.8140676C>T NCBI36
NG_015859.1:g.9004C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.644C>T ENSP00000341619.3:p.Thr215Ile
ENST00000379328.9:c.644C>T MANE Select ENSP00000368632.3:p.Thr215Ile
ENST00000346208.3:c.644C>T ENSP00000341619.3:p.Thr215Ile
ENST00000379328.7:c.644C>T ENSP00000368632.3:p.Thr215Ile
ENST00000461472.1:n.309C>T
NM_001002295.1:c.644C>T NP_001002295.1:p.Thr215Ile
NM_002051.2:c.644C>T NP_002042.1:p.Thr215Ile
XM_005252442.2:c.644C>T XP_005252499.1:p.Thr215Ile
XM_005252443.3:c.644C>T XP_005252500.1:p.Thr215Ile
XM_005252443.5:c.644C>T XP_005252500.1:p.Thr215Ile
NM_001002295.2:c.644C>T MANE Select NP_001002295.1:p.Thr215Ile
NM_002051.3:c.644C>T NP_002042.1:p.Thr215Ile