Canonical Allele Identifier: CA5404416
Gene: GATA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 301123
ClinVar RCV Id: RCV000318200
dbSNP Id: rs778421571
ExAC: 10:8100657 G / A
gnomAD v2: 10-8100657-G-A
gnomAD v3: 10-8058694-G-A
gnomAD v4: 10-8058694-G-A
MyVariant Identifiers: chr10:g.8100657G>A (hg19) chr10:g.8058694G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8058694G>A , CM000672.2:g.8058694G>A GRCh38
NC_000010.10:g.8100657G>A , CM000672.1:g.8100657G>A GRCh37
NC_000010.9:g.8140663G>A NCBI36
NG_015859.1:g.8991G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.631G>A ENSP00000341619.3:p.Ala211Thr
ENST00000379328.9:c.631G>A MANE Select ENSP00000368632.3:p.Ala211Thr
ENST00000346208.3:c.631G>A ENSP00000341619.3:p.Ala211Thr
ENST00000379328.7:c.631G>A ENSP00000368632.3:p.Ala211Thr
ENST00000461472.1:n.296G>A
NM_001002295.1:c.631G>A NP_001002295.1:p.Ala211Thr
NM_002051.2:c.631G>A NP_002042.1:p.Ala211Thr
XM_005252442.2:c.631G>A XP_005252499.1:p.Ala211Thr
XM_005252443.3:c.631G>A XP_005252500.1:p.Ala211Thr
XM_005252443.5:c.631G>A XP_005252500.1:p.Ala211Thr
NM_001002295.2:c.631G>A MANE Select NP_001002295.1:p.Ala211Thr
NM_002051.3:c.631G>A NP_002042.1:p.Ala211Thr
Search 100 bp 5'
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