Canonical Allele Identifier: CA13142247

Gene: GATA3

Linked Data

• ClinVar Variation Id: 1223371
• ClinVar RCV Id: RCV001596311
• dbSNP Id: rs3824662
• gnomAD v2: 10-8104208-C-A
• gnomAD v3: 10-8062245-C-A
• gnomAD v4: 10-8062245-C-A
• MyVariant Identifiers: chr10:g.8104208C>A (hg19) ; chr10:g.8062245C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8062245C>A , CM000672.2:g.8062245C>A	GRCh38
NC_000010.10:g.8104208C>A , CM000672.1:g.8104208C>A	GRCh37
NC_000010.9:g.8144214C>A	NCBI36
NG_015859.1:g.12542C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000346208.4:c.779-1751C>A	ENSP00000341619.3:n.779-1751C>A
ENST00000379328.9:c.779-1748C>A MANE Select	ENSP00000368632.3:n.779-1748C>A
ENST00000346208.3:c.779-1751C>A	ENSP00000341619.3:n.779-1751C>A
ENST00000379328.7:c.779-1748C>A	ENSP00000368632.3:n.779-1748C>A
ENST00000461472.1:n.443+3404C>A
NM_001002295.1:c.779-1748C>A	NP_001002295.1:n.779-1748C>A
NM_002051.2:c.779-1751C>A	NP_002042.1:n.779-1751C>A
XM_005252442.2:c.779-1748C>A	XP_005252499.1:n.779-1748C>A
XM_005252443.3:c.779-1748C>A	XP_005252500.1:n.779-1748C>A
XM_005252443.5:c.779-1748C>A	XP_005252500.1:n.779-1748C>A
NM_001002295.2:c.779-1748C>A MANE Select	NP_001002295.1:n.779-1748C>A
NM_002051.3:c.779-1751C>A	NP_002042.1:n.779-1751C>A