Canonical Allele Identifier: CA5404589

Gene: GATA3

Linked Data

• dbSNP Id: rs757013522
• ExAC: 10:8115989 C / A
• gnomAD v2: 10-8115989-C-A
• gnomAD v4: 10-8074026-C-A
• MyVariant Identifiers: chr10:g.8115989C>A (hg19) ; chr10:g.8074026C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8074026C>A , CM000672.2:g.8074026C>A	GRCh38
NC_000010.10:g.8115989C>A , CM000672.1:g.8115989C>A	GRCh37
NC_000010.9:g.8155995C>A	NCBI36
NG_015859.1:g.24323C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346208.4:c.*3C>A	ENSP00000341619.3:n.*3C>A
ENST00000379328.9:c.*3C>A MANE Select	ENSP00000368632.3:n.*3C>A
ENST00000346208.3:c.*3C>A	ENSP00000341619.3:n.*3C>A
ENST00000379328.7:c.*3C>A	ENSP00000368632.3:n.*3C>A
ENST00000461472.1:n.857C>A
NM_001002295.1:c.*3C>A	NP_001002295.1:n.*3C>A
NM_002051.2:c.*3C>A	NP_002042.1:n.*3C>A
XM_005252442.2:c.*3C>A	XP_005252499.1:n.*3C>A
XM_005252443.3:c.*3C>A	XP_005252500.1:n.*3C>A
XM_005252443.5:c.*3C>A	XP_005252500.1:n.*3C>A
NM_001002295.2:c.*3C>A MANE Select	NP_001002295.1:n.*3C>A
NM_002051.3:c.*3C>A	NP_002042.1:n.*3C>A