Canonical Allele Identifier: CA375966940

Gene: GATA3

Linked Data

• ClinVar Variation Id: 2907052
• ClinVar RCV Id: RCV003734490
• dbSNP Id: rs1832679983
• gnomAD v3: 10-8058370-C-G
• gnomAD v4: 10-8058370-C-G
• MyVariant Identifiers: chr10:g.8100333C>G (hg19) ; chr10:g.8058370C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8058370C>G , CM000672.2:g.8058370C>G	GRCh38
NC_000010.10:g.8100333C>G , CM000672.1:g.8100333C>G	GRCh37
NC_000010.9:g.8140339C>G	NCBI36
NG_015859.1:g.8667C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346208.4:c.307C>G	ENSP00000341619.3:p.Leu103Val
ENST00000379328.9:c.307C>G MANE Select	ENSP00000368632.3:p.Leu103Val
ENST00000481743.2:c.307C>G	ENSP00000493486.1:p.Leu103Val
ENST00000346208.3:c.307C>G	ENSP00000341619.3:p.Leu103Val
ENST00000379328.7:c.307C>G	ENSP00000368632.3:p.Leu103Val
NM_001002295.1:c.307C>G	NP_001002295.1:p.Leu103Val
NM_002051.2:c.307C>G	NP_002042.1:p.Leu103Val
XM_005252442.2:c.307C>G	XP_005252499.1:p.Leu103Val
XM_005252443.3:c.307C>G	XP_005252500.1:p.Leu103Val
XM_005252443.5:c.307C>G	XP_005252500.1:p.Leu103Val
NM_001002295.2:c.307C>G MANE Select	NP_001002295.1:p.Leu103Val
NM_002051.3:c.307C>G	NP_002042.1:p.Leu103Val