Canonical Allele Identifier: CA5404346

Gene: GATA3

Linked Data

• dbSNP Id: rs756446087
• ExAC: 10:8100390 A / T
• gnomAD v2: 10-8100390-A-T
• gnomAD v4: 10-8058427-A-T
• MyVariant Identifiers: chr10:g.8100390A>T (hg19) ; chr10:g.8058427A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8058427A>T , CM000672.2:g.8058427A>T	GRCh38
NC_000010.10:g.8100390A>T , CM000672.1:g.8100390A>T	GRCh37
NC_000010.9:g.8140396A>T	NCBI36
NG_015859.1:g.8724A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346208.4:c.364A>T	ENSP00000341619.3:p.Ile122Phe
ENST00000379328.9:c.364A>T MANE Select	ENSP00000368632.3:p.Ile122Phe
ENST00000481743.2:c.364A>T	ENSP00000493486.1:p.Ile122Phe
ENST00000346208.3:c.364A>T	ENSP00000341619.3:p.Ile122Phe
ENST00000379328.7:c.364A>T	ENSP00000368632.3:p.Ile122Phe
ENST00000461472.1:n.29A>T
NM_001002295.1:c.364A>T	NP_001002295.1:p.Ile122Phe
NM_002051.2:c.364A>T	NP_002042.1:p.Ile122Phe
XM_005252442.2:c.364A>T	XP_005252499.1:p.Ile122Phe
XM_005252443.3:c.364A>T	XP_005252500.1:p.Ile122Phe
XM_005252443.5:c.364A>T	XP_005252500.1:p.Ile122Phe
NM_001002295.2:c.364A>T MANE Select	NP_001002295.1:p.Ile122Phe
NM_002051.3:c.364A>T	NP_002042.1:p.Ile122Phe