Canonical Allele Identifier: CA5404345

Gene: GATA3

Linked Data

• ClinVar Variation Id: 424946
• ClinVar RCV Id: RCV000488087 ; RCV001375342 ; RCV002496880
• dbSNP Id: rs750735308
• ExAC: 10:8100385 C / T
• gnomAD v2: 10-8100385-C-T
• gnomAD v3: 10-8058422-C-T
• gnomAD v4: 10-8058422-C-T
• MyVariant Identifiers: chr10:g.8100385C>T (hg19) ; chr10:g.8058422C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8058422C>T , CM000672.2:g.8058422C>T	GRCh38
NC_000010.10:g.8100385C>T , CM000672.1:g.8100385C>T	GRCh37
NC_000010.9:g.8140391C>T	NCBI36
NG_015859.1:g.8719C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000346208.4:c.359C>T	ENSP00000341619.3:p.Thr120Met
ENST00000379328.9:c.359C>T MANE Select	ENSP00000368632.3:p.Thr120Met
ENST00000481743.2:c.359C>T	ENSP00000493486.1:p.Thr120Met
ENST00000346208.3:c.359C>T	ENSP00000341619.3:p.Thr120Met
ENST00000379328.7:c.359C>T	ENSP00000368632.3:p.Thr120Met
ENST00000461472.1:n.24C>T
NM_001002295.1:c.359C>T	NP_001002295.1:p.Thr120Met
NM_002051.2:c.359C>T	NP_002042.1:p.Thr120Met
XM_005252442.2:c.359C>T	XP_005252499.1:p.Thr120Met
XM_005252443.3:c.359C>T	XP_005252500.1:p.Thr120Met
XM_005252443.5:c.359C>T	XP_005252500.1:p.Thr120Met
NM_001002295.2:c.359C>T MANE Select	NP_001002295.1:p.Thr120Met
NM_002051.3:c.359C>T	NP_002042.1:p.Thr120Met