Canonical Allele Identifier: CA5404420
Gene: GATA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2469897
ClinVar RCV Id: RCV003190950 RCV003973777
dbSNP Id: rs568425942
ExAC: 10:8100675 C / G
gnomAD v2: 10-8100675-C-G
gnomAD v3: 10-8058712-C-G
gnomAD v4: 10-8058712-C-G
MyVariant Identifiers: chr10:g.8100675C>G (hg19) chr10:g.8058712C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8058712C>G , CM000672.2:g.8058712C>G GRCh38
NC_000010.10:g.8100675C>G , CM000672.1:g.8100675C>G GRCh37
NC_000010.9:g.8140681C>G NCBI36
NG_015859.1:g.9009C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.649C>G ENSP00000341619.3:p.His217Asp
ENST00000379328.9:c.649C>G MANE Select ENSP00000368632.3:p.His217Asp
ENST00000346208.3:c.649C>G ENSP00000341619.3:p.His217Asp
ENST00000379328.7:c.649C>G ENSP00000368632.3:p.His217Asp
ENST00000461472.1:n.314C>G
NM_001002295.1:c.649C>G NP_001002295.1:p.His217Asp
NM_002051.2:c.649C>G NP_002042.1:p.His217Asp
XM_005252442.2:c.649C>G XP_005252499.1:p.His217Asp
XM_005252443.3:c.649C>G XP_005252500.1:p.His217Asp
XM_005252443.5:c.649C>G XP_005252500.1:p.His217Asp
NM_001002295.2:c.649C>G MANE Select NP_001002295.1:p.His217Asp
NM_002051.3:c.649C>G NP_002042.1:p.His217Asp
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