Canonical Allele Identifier: CA5404552

Gene: GATA3

Linked Data

• dbSNP Id: rs748371578
• ExAC: 10:8115771 A / G
• gnomAD v2: 10-8115771-A-G
• gnomAD v4: 10-8073808-A-G
• MyVariant Identifiers: chr10:g.8115771A>G (hg19) ; chr10:g.8073808A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8073808A>G , CM000672.2:g.8073808A>G	GRCh38
NC_000010.10:g.8115771A>G , CM000672.1:g.8115771A>G	GRCh37
NC_000010.9:g.8155777A>G	NCBI36
NG_015859.1:g.24105A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346208.4:c.1117A>G	ENSP00000341619.3:p.Lys373Glu
ENST00000379328.9:c.1120A>G MANE Select	ENSP00000368632.3:p.Lys374Glu
ENST00000346208.3:c.1117A>G	ENSP00000341619.3:p.Lys373Glu
ENST00000379328.7:c.1120A>G	ENSP00000368632.3:p.Lys374Glu
ENST00000461472.1:n.639A>G
NM_001002295.1:c.1120A>G	NP_001002295.1:p.Lys374Glu
NM_002051.2:c.1117A>G	NP_002042.1:p.Lys373Glu
XM_005252442.2:c.1120A>G	XP_005252499.1:p.Lys374Glu
XM_005252443.3:c.1120A>G	XP_005252500.1:p.Lys374Glu
XM_005252443.5:c.1120A>G	XP_005252500.1:p.Lys374Glu
NM_001002295.2:c.1120A>G MANE Select	NP_001002295.1:p.Lys374Glu
NM_002051.3:c.1117A>G	NP_002042.1:p.Lys373Glu