Canonical Allele Identifier: CA375969339

Gene: GATA3

Linked Data

• gnomAD v4: 10-8058614-T-G
• MyVariant Identifiers: chr10:g.8100577T>G (hg19) ; chr10:g.8058614T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8058614T>G , CM000672.2:g.8058614T>G	GRCh38
NC_000010.10:g.8100577T>G , CM000672.1:g.8100577T>G	GRCh37
NC_000010.9:g.8140583T>G	NCBI36
NG_015859.1:g.8911T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346208.4:c.551T>G	ENSP00000341619.3:p.Leu184Arg
ENST00000379328.9:c.551T>G MANE Select	ENSP00000368632.3:p.Leu184Arg
ENST00000346208.3:c.551T>G	ENSP00000341619.3:p.Leu184Arg
ENST00000379328.7:c.551T>G	ENSP00000368632.3:p.Leu184Arg
ENST00000461472.1:n.216T>G
NM_001002295.1:c.551T>G	NP_001002295.1:p.Leu184Arg
NM_002051.2:c.551T>G	NP_002042.1:p.Leu184Arg
XM_005252442.2:c.551T>G	XP_005252499.1:p.Leu184Arg
XM_005252443.3:c.551T>G	XP_005252500.1:p.Leu184Arg
XM_005252443.5:c.551T>G	XP_005252500.1:p.Leu184Arg
NM_001002295.2:c.551T>G MANE Select	NP_001002295.1:p.Leu184Arg
NM_002051.3:c.551T>G	NP_002042.1:p.Leu184Arg