Canonical Allele Identifier: CA5404393

Gene: GATA3

Linked Data

• dbSNP Id: rs781061054
• ExAC: 10:8100570 G / C
• gnomAD v2: 10-8100570-G-C
• MyVariant Identifiers: chr10:g.8100570G>C (hg19) ; chr10:g.8058607G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8058607G>C , CM000672.2:g.8058607G>C	GRCh38
NC_000010.10:g.8100570G>C , CM000672.1:g.8100570G>C	GRCh37
NC_000010.9:g.8140576G>C	NCBI36
NG_015859.1:g.8904G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346208.4:c.544G>C	ENSP00000341619.3:p.Glu182Gln
ENST00000379328.9:c.544G>C MANE Select	ENSP00000368632.3:p.Glu182Gln
ENST00000346208.3:c.544G>C	ENSP00000341619.3:p.Glu182Gln
ENST00000379328.7:c.544G>C	ENSP00000368632.3:p.Glu182Gln
ENST00000461472.1:n.209G>C
NM_001002295.1:c.544G>C	NP_001002295.1:p.Glu182Gln
NM_002051.2:c.544G>C	NP_002042.1:p.Glu182Gln
XM_005252442.2:c.544G>C	XP_005252499.1:p.Glu182Gln
XM_005252443.3:c.544G>C	XP_005252500.1:p.Glu182Gln
XM_005252443.5:c.544G>C	XP_005252500.1:p.Glu182Gln
NM_001002295.2:c.544G>C MANE Select	NP_001002295.1:p.Glu182Gln
NM_002051.3:c.544G>C	NP_002042.1:p.Glu182Gln