Canonical Allele Identifier: CA5404579

Gene: GATA3

Linked Data

• ClinVar Variation Id: 974707
• ClinVar RCV Id: RCV001251020
• dbSNP Id: rs374919553
• ExAC: 10:8115913 C / T
• gnomAD v2: 10-8115913-C-T
• gnomAD v3: 10-8073950-C-T
• gnomAD v4: 10-8073950-C-T
• COSMIC: COSM4016236
• MyVariant Identifiers: chr10:g.8115913C>T (hg19) ; chr10:g.8073950C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8073950C>T , CM000672.2:g.8073950C>T	GRCh38
NC_000010.10:g.8115913C>T , CM000672.1:g.8115913C>T	GRCh37
NC_000010.9:g.8155919C>T	NCBI36
NG_015859.1:g.24247C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346208.4:c.1259C>T	ENSP00000341619.3:p.Thr420Met
ENST00000379328.9:c.1262C>T MANE Select	ENSP00000368632.3:p.Thr421Met
ENST00000346208.3:c.1259C>T	ENSP00000341619.3:p.Thr420Met
ENST00000379328.7:c.1262C>T	ENSP00000368632.3:p.Thr421Met
ENST00000461472.1:n.781C>T
NM_001002295.1:c.1262C>T	NP_001002295.1:p.Thr421Met
NM_002051.2:c.1259C>T	NP_002042.1:p.Thr420Met
XM_005252442.2:c.1262C>T	XP_005252499.1:p.Thr421Met
XM_005252443.3:c.1262C>T	XP_005252500.1:p.Thr421Met
XM_005252443.5:c.1262C>T	XP_005252500.1:p.Thr421Met
NM_001002295.2:c.1262C>T MANE Select	NP_001002295.1:p.Thr421Met
NM_002051.3:c.1259C>T	NP_002042.1:p.Thr420Met