Canonical Allele Identifier: CA5404421

Gene: GATA3

Linked Data

• dbSNP Id: rs770295963
• ExAC: 10:8100685 C / T
• gnomAD v2: 10-8100685-C-T
• gnomAD v4: 10-8058722-C-T
• MyVariant Identifiers: chr10:g.8100685C>T (hg19) ; chr10:g.8058722C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8058722C>T , CM000672.2:g.8058722C>T	GRCh38
NC_000010.10:g.8100685C>T , CM000672.1:g.8100685C>T	GRCh37
NC_000010.9:g.8140691C>T	NCBI36
NG_015859.1:g.9019C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346208.4:c.659C>T	ENSP00000341619.3:p.Thr220Ile
ENST00000379328.9:c.659C>T MANE Select	ENSP00000368632.3:p.Thr220Ile
ENST00000346208.3:c.659C>T	ENSP00000341619.3:p.Thr220Ile
ENST00000379328.7:c.659C>T	ENSP00000368632.3:p.Thr220Ile
ENST00000461472.1:n.324C>T
NM_001002295.1:c.659C>T	NP_001002295.1:p.Thr220Ile
NM_002051.2:c.659C>T	NP_002042.1:p.Thr220Ile
XM_005252442.2:c.659C>T	XP_005252499.1:p.Thr220Ile
XM_005252443.3:c.659C>T	XP_005252500.1:p.Thr220Ile
XM_005252443.5:c.659C>T	XP_005252500.1:p.Thr220Ile
NM_001002295.2:c.659C>T MANE Select	NP_001002295.1:p.Thr220Ile
NM_002051.3:c.659C>T	NP_002042.1:p.Thr220Ile