Canonical Allele Identifier: CA375975759

Gene: GATA3

Linked Data

• ClinVar Variation Id: 1951079
• ClinVar RCV Id: RCV002681711
• MyVariant Identifiers: chr10:g.8115854G>A (hg19) ; chr10:g.8073891G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8073891G>A , CM000672.2:g.8073891G>A	GRCh38
NC_000010.10:g.8115854G>A , CM000672.1:g.8115854G>A	GRCh37
NC_000010.9:g.8155860G>A	NCBI36
NG_015859.1:g.24188G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000346208.4:c.1200G>A	ENSP00000341619.3:p.Met400Ile
ENST00000379328.9:c.1203G>A MANE Select	ENSP00000368632.3:p.Met401Ile
ENST00000346208.3:c.1200G>A	ENSP00000341619.3:p.Met400Ile
ENST00000379328.7:c.1203G>A	ENSP00000368632.3:p.Met401Ile
ENST00000461472.1:n.722G>A
NM_001002295.1:c.1203G>A	NP_001002295.1:p.Met401Ile
NM_002051.2:c.1200G>A	NP_002042.1:p.Met400Ile
XM_005252442.2:c.1203G>A	XP_005252499.1:p.Met401Ile
XM_005252443.3:c.1203G>A	XP_005252500.1:p.Met401Ile
XM_005252443.5:c.1203G>A	XP_005252500.1:p.Met401Ile
NM_001002295.2:c.1203G>A MANE Select	NP_001002295.1:p.Met401Ile
NM_002051.3:c.1200G>A	NP_002042.1:p.Met400Ile