Canonical Allele Identifier: CA375969775

Gene: GATA3

Linked Data

• dbSNP Id: rs1465086730
• gnomAD v4: 10-8058659-C-A
• COSMIC: COSM5503582
• MyVariant Identifiers: chr10:g.8100622C>A (hg19) ; chr10:g.8058659C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8058659C>A , CM000672.2:g.8058659C>A	GRCh38
NC_000010.10:g.8100622C>A , CM000672.1:g.8100622C>A	GRCh37
NC_000010.9:g.8140628C>A	NCBI36
NG_015859.1:g.8956C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346208.4:c.596C>A	ENSP00000341619.3:p.Ser199Tyr
ENST00000379328.9:c.596C>A MANE Select	ENSP00000368632.3:p.Ser199Tyr
ENST00000346208.3:c.596C>A	ENSP00000341619.3:p.Ser199Tyr
ENST00000379328.7:c.596C>A	ENSP00000368632.3:p.Ser199Tyr
ENST00000461472.1:n.261C>A
NM_001002295.1:c.596C>A	NP_001002295.1:p.Ser199Tyr
NM_002051.2:c.596C>A	NP_002042.1:p.Ser199Tyr
XM_005252442.2:c.596C>A	XP_005252499.1:p.Ser199Tyr
XM_005252443.3:c.596C>A	XP_005252500.1:p.Ser199Tyr
XM_005252443.5:c.596C>A	XP_005252500.1:p.Ser199Tyr
NM_001002295.2:c.596C>A MANE Select	NP_001002295.1:p.Ser199Tyr
NM_002051.3:c.596C>A	NP_002042.1:p.Ser199Tyr