Canonical Allele Identifier: CA5404433

Gene: GATA3

Linked Data

• ClinVar Variation Id: 879110
• ClinVar RCV Id: RCV001106310 ; RCV003413918
• dbSNP Id: rs148835259
• ExAC: 10:8100732 C / A
• gnomAD v2: 10-8100732-C-A
• gnomAD v3: 10-8058769-C-A
• gnomAD v4: 10-8058769-C-A
• MyVariant Identifiers: chr10:g.8100732C>A (hg19) ; chr10:g.8058769C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8058769C>A , CM000672.2:g.8058769C>A	GRCh38
NC_000010.10:g.8100732C>A , CM000672.1:g.8100732C>A	GRCh37
NC_000010.9:g.8140738C>A	NCBI36
NG_015859.1:g.9066C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346208.4:c.706C>A	ENSP00000341619.3:p.Pro236Thr
ENST00000379328.9:c.706C>A MANE Select	ENSP00000368632.3:p.Pro236Thr
ENST00000346208.3:c.706C>A	ENSP00000341619.3:p.Pro236Thr
ENST00000379328.7:c.706C>A	ENSP00000368632.3:p.Pro236Thr
ENST00000461472.1:n.371C>A
NM_001002295.1:c.706C>A	NP_001002295.1:p.Pro236Thr
NM_002051.2:c.706C>A	NP_002042.1:p.Pro236Thr
XM_005252442.2:c.706C>A	XP_005252499.1:p.Pro236Thr
XM_005252443.3:c.706C>A	XP_005252500.1:p.Pro236Thr
XM_005252443.5:c.706C>A	XP_005252500.1:p.Pro236Thr
NM_001002295.2:c.706C>A MANE Select	NP_001002295.1:p.Pro236Thr
NM_002051.3:c.706C>A	NP_002042.1:p.Pro236Thr