Canonical Allele Identifier: CA375975949

Gene: GATA3

Linked Data

• dbSNP Id: rs2131522803
• gnomAD v4: 10-8073979-T-C
• MyVariant Identifiers: chr10:g.8115942T>C (hg19) ; chr10:g.8073979T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8073979T>C , CM000672.2:g.8073979T>C	GRCh38
NC_000010.10:g.8115942T>C , CM000672.1:g.8115942T>C	GRCh37
NC_000010.9:g.8155948T>C	NCBI36
NG_015859.1:g.24276T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346208.4:c.1288T>C	ENSP00000341619.3:p.Phe430Leu
ENST00000379328.9:c.1291T>C MANE Select	ENSP00000368632.3:p.Phe431Leu
ENST00000346208.3:c.1288T>C	ENSP00000341619.3:p.Phe430Leu
ENST00000379328.7:c.1291T>C	ENSP00000368632.3:p.Phe431Leu
ENST00000461472.1:n.810T>C
NM_001002295.1:c.1291T>C	NP_001002295.1:p.Phe431Leu
NM_002051.2:c.1288T>C	NP_002042.1:p.Phe430Leu
XM_005252442.2:c.1291T>C	XP_005252499.1:p.Phe431Leu
XM_005252443.3:c.1291T>C	XP_005252500.1:p.Phe431Leu
XM_005252443.5:c.1291T>C	XP_005252500.1:p.Phe431Leu
NM_001002295.2:c.1291T>C MANE Select	NP_001002295.1:p.Phe431Leu
NM_002051.3:c.1288T>C	NP_002042.1:p.Phe430Leu