Canonical Allele Identifier: CA5404431
Gene: GATA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 301124
ClinVar RCV Id: RCV000386611 RCV001859789
dbSNP Id: rs148835259
ExAC: 10:8100732 C / G
gnomAD v2: 10-8100732-C-G
gnomAD v3: 10-8058769-C-G
gnomAD v4: 10-8058769-C-G
MyVariant Identifiers: chr10:g.8100732C>G (hg19) chr10:g.8058769C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8058769C>G , CM000672.2:g.8058769C>G GRCh38
NC_000010.10:g.8100732C>G , CM000672.1:g.8100732C>G GRCh37
NC_000010.9:g.8140738C>G NCBI36
NG_015859.1:g.9066C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.706C>G ENSP00000341619.3:p.Pro236Ala
ENST00000379328.9:c.706C>G MANE Select ENSP00000368632.3:p.Pro236Ala
ENST00000346208.3:c.706C>G ENSP00000341619.3:p.Pro236Ala
ENST00000379328.7:c.706C>G ENSP00000368632.3:p.Pro236Ala
ENST00000461472.1:n.371C>G
NM_001002295.1:c.706C>G NP_001002295.1:p.Pro236Ala
NM_002051.2:c.706C>G NP_002042.1:p.Pro236Ala
XM_005252442.2:c.706C>G XP_005252499.1:p.Pro236Ala
XM_005252443.3:c.706C>G XP_005252500.1:p.Pro236Ala
XM_005252443.5:c.706C>G XP_005252500.1:p.Pro236Ala
NM_001002295.2:c.706C>G MANE Select NP_001002295.1:p.Pro236Ala
NM_002051.3:c.706C>G NP_002042.1:p.Pro236Ala
Search 100 bp 5'
Search 100 bp 3'