Canonical Allele Identifier: CA126732

Gene: GATA3

Linked Data

• ClinVar Variation Id: 16623
• ClinVar RCV Id: RCV000018102 ; RCV003556041
• dbSNP Id: rs104894162
• MyVariant Identifiers: chr10:g.8106006C>T (hg19) ; chr10:g.8064043C>T (hg38)
• PubMed: PMID:10935639

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8064043C>T , CM000672.2:g.8064043C>T	GRCh38
NC_000010.10:g.8106006C>T , CM000672.1:g.8106006C>T	GRCh37
NC_000010.9:g.8146012C>T	NCBI36
NG_015859.1:g.14340C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346208.4:c.826C>T	ENSP00000341619.3:p.Arg276Ter
ENST00000379328.9:c.829C>T MANE Select	ENSP00000368632.3:p.Arg277Ter
ENST00000346208.3:c.826C>T	ENSP00000341619.3:p.Arg276Ter
ENST00000379328.7:c.829C>T	ENSP00000368632.3:p.Arg277Ter
ENST00000461472.1:n.443+5202C>T
NM_001002295.1:c.829C>T	NP_001002295.1:p.Arg277Ter
NM_002051.2:c.826C>T	NP_002042.1:p.Arg276Ter
XM_005252442.2:c.829C>T	XP_005252499.1:p.Arg277Ter
XM_005252443.3:c.829C>T	XP_005252500.1:p.Arg277Ter
XM_005252443.5:c.829C>T	XP_005252500.1:p.Arg277Ter
NM_001002295.2:c.829C>T MANE Select	NP_001002295.1:p.Arg277Ter
NM_002051.3:c.826C>T	NP_002042.1:p.Arg276Ter