Canonical Allele Identifier: CA5404594

Gene: GATA3

Linked Data

• dbSNP Id: rs748832979
• ExAC: 10:8116007 G / A
• gnomAD v2: 10-8116007-G-A
• gnomAD v4: 10-8074044-G-A
• MyVariant Identifiers: chr10:g.8116007G>A (hg19) ; chr10:g.8074044G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8074044G>A , CM000672.2:g.8074044G>A	GRCh38
NC_000010.10:g.8116007G>A , CM000672.1:g.8116007G>A	GRCh37
NC_000010.9:g.8156013G>A	NCBI36
NG_015859.1:g.24341G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346208.4:c.*21G>A	ENSP00000341619.3:n.*21G>A
ENST00000379328.9:c.*21G>A MANE Select	ENSP00000368632.3:n.*21G>A
ENST00000346208.3:c.*21G>A	ENSP00000341619.3:n.*21G>A
ENST00000379328.7:c.*21G>A	ENSP00000368632.3:n.*21G>A
ENST00000461472.1:n.875G>A
NM_001002295.1:c.*21G>A	NP_001002295.1:n.*21G>A
NM_002051.2:c.*21G>A	NP_002042.1:n.*21G>A
XM_005252442.2:c.*21G>A	XP_005252499.1:n.*21G>A
XM_005252443.3:c.*21G>A	XP_005252500.1:n.*21G>A
XM_005252443.5:c.*21G>A	XP_005252500.1:n.*21G>A
NM_001002295.2:c.*21G>A MANE Select	NP_001002295.1:n.*21G>A
NM_002051.3:c.*21G>A	NP_002042.1:n.*21G>A