Canonical Allele Identifier: CA375967582

Gene: GATA3

Linked Data

• ClinVar Variation Id: 2971695
• ClinVar RCV Id: RCV003832757
• dbSNP Id: rs1268951338
• gnomAD v2: 10-8100409-G-A
• gnomAD v4: 10-8058446-G-A
• COSMIC: COSM3440916
• MyVariant Identifiers: chr10:g.8100409G>A (hg19) ; chr10:g.8058446G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8058446G>A , CM000672.2:g.8058446G>A	GRCh38
NC_000010.10:g.8100409G>A , CM000672.1:g.8100409G>A	GRCh37
NC_000010.9:g.8140415G>A	NCBI36
NG_015859.1:g.8743G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346208.4:c.383G>A	ENSP00000341619.3:p.Gly128Glu
ENST00000379328.9:c.383G>A MANE Select	ENSP00000368632.3:p.Gly128Glu
ENST00000481743.2:c.383G>A	ENSP00000493486.1:p.Gly128Glu
ENST00000346208.3:c.383G>A	ENSP00000341619.3:p.Gly128Glu
ENST00000379328.7:c.383G>A	ENSP00000368632.3:p.Gly128Glu
ENST00000461472.1:n.48G>A
NM_001002295.1:c.383G>A	NP_001002295.1:p.Gly128Glu
NM_002051.2:c.383G>A	NP_002042.1:p.Gly128Glu
XM_005252442.2:c.383G>A	XP_005252499.1:p.Gly128Glu
XM_005252443.3:c.383G>A	XP_005252500.1:p.Gly128Glu
XM_005252443.5:c.383G>A	XP_005252500.1:p.Gly128Glu
NM_001002295.2:c.383G>A MANE Select	NP_001002295.1:p.Gly128Glu
NM_002051.3:c.383G>A	NP_002042.1:p.Gly128Glu