Canonical Allele Identifier: CA375970667

Gene: GATA3

Linked Data

• dbSNP Id: rs199565632
• gnomAD v3: 10-8058765-C-G
• gnomAD v4: 10-8058765-C-G
• MyVariant Identifiers: chr10:g.8100728C>G (hg19) ; chr10:g.8058765C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8058765C>G , CM000672.2:g.8058765C>G	GRCh38
NC_000010.10:g.8100728C>G , CM000672.1:g.8100728C>G	GRCh37
NC_000010.9:g.8140734C>G	NCBI36
NG_015859.1:g.9062C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346208.4:c.702C>G	ENSP00000341619.3:p.Phe234Leu
ENST00000379328.9:c.702C>G MANE Select	ENSP00000368632.3:p.Phe234Leu
ENST00000346208.3:c.702C>G	ENSP00000341619.3:p.Phe234Leu
ENST00000379328.7:c.702C>G	ENSP00000368632.3:p.Phe234Leu
ENST00000461472.1:n.367C>G
NM_001002295.1:c.702C>G	NP_001002295.1:p.Phe234Leu
NM_002051.2:c.702C>G	NP_002042.1:p.Phe234Leu
XM_005252442.2:c.702C>G	XP_005252499.1:p.Phe234Leu
XM_005252443.3:c.702C>G	XP_005252500.1:p.Phe234Leu
XM_005252443.5:c.702C>G	XP_005252500.1:p.Phe234Leu
NM_001002295.2:c.702C>G MANE Select	NP_001002295.1:p.Phe234Leu
NM_002051.3:c.702C>G	NP_002042.1:p.Phe234Leu