Canonical Allele Identifier: CA5404299

Gene: GATA3

Linked Data

• ClinVar Variation Id: 301119
• ClinVar RCV Id: RCV000322130 ; RCV001288970 ; RCV001549549 ; RCV003940139
• dbSNP Id: rs560531559
• ExAC: 10:8097834 G / T
• gnomAD v2: 10-8097834-G-T
• gnomAD v3: 10-8055871-G-T
• gnomAD v4: 10-8055871-G-T
• MyVariant Identifiers: chr10:g.8097834G>T (hg19) ; chr10:g.8055871G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8055871G>T , CM000672.2:g.8055871G>T	GRCh38
NC_000010.10:g.8097834G>T , CM000672.1:g.8097834G>T	GRCh37
NC_000010.9:g.8137840G>T	NCBI36
NG_015859.1:g.6168G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000346208.4:c.216G>T	ENSP00000341619.3:p.Val72=
ENST00000379328.9:c.216G>T MANE Select	ENSP00000368632.3:p.Val72=
ENST00000481743.2:c.216G>T	ENSP00000493486.1:p.Val72=
ENST00000643001.1:c.216G>T	ENSP00000494284.1:p.Val72=
ENST00000346208.3:c.216G>T	ENSP00000341619.3:p.Val72=
ENST00000379328.7:c.216G>T	ENSP00000368632.3:p.Val72=
NM_001002295.1:c.216G>T	NP_001002295.1:p.Val72=
NM_002051.2:c.216G>T	NP_002042.1:p.Val72=
XM_005252442.2:c.216G>T	XP_005252499.1:p.Val72=
XM_005252443.3:c.216G>T	XP_005252500.1:p.Val72=
XM_005252443.5:c.216G>T	XP_005252500.1:p.Val72=
XR_001747358.1:n.617+895C>A
NM_001002295.2:c.216G>T MANE Select	NP_001002295.1:p.Val72=
NM_002051.3:c.216G>T	NP_002042.1:p.Val72=