Canonical Allele Identifier: CA159918
Gene: GATA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 134471
ClinVar RCV Id: RCV000121153 RCV001108532 RCV002225381
dbSNP Id: rs200935603
ExAC: 10:8115837 G / A
gnomAD v2: 10-8115837-G-A
gnomAD v3: 10-8073874-G-A
gnomAD v4: 10-8073874-G-A
COSMIC: COSM1163766
MyVariant Identifiers: chr10:g.8115837G>A (hg19) chr10:g.8073874G>A (hg38)
PubMed: PMID:24728327
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8073874G>A , CM000672.2:g.8073874G>A GRCh38
NC_000010.10:g.8115837G>A , CM000672.1:g.8115837G>A GRCh37
NC_000010.9:g.8155843G>A NCBI36
NG_015859.1:g.24171G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.1183G>A ENSP00000341619.3:p.Ala395Thr
ENST00000379328.9:c.1186G>A MANE Select ENSP00000368632.3:p.Ala396Thr
ENST00000346208.3:c.1183G>A ENSP00000341619.3:p.Ala395Thr
ENST00000379328.7:c.1186G>A ENSP00000368632.3:p.Ala396Thr
ENST00000461472.1:n.705G>A
NM_001002295.1:c.1186G>A NP_001002295.1:p.Ala396Thr
NM_002051.2:c.1183G>A NP_002042.1:p.Ala395Thr
XM_005252442.2:c.1186G>A XP_005252499.1:p.Ala396Thr
XM_005252443.3:c.1186G>A XP_005252500.1:p.Ala396Thr
XM_005252443.5:c.1186G>A XP_005252500.1:p.Ala396Thr
NM_001002295.2:c.1186G>A MANE Select NP_001002295.1:p.Ala396Thr
NM_002051.3:c.1183G>A NP_002042.1:p.Ala395Thr
Search 100 bp 5'
Search 100 bp 3'