Canonical Allele Identifier: CA5404598
Gene: GATA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 301130
ClinVar RCV Id: RCV000308952
dbSNP Id: rs200946839
ExAC: 10:8116012 C / G
gnomAD v2: 10-8116012-C-G
gnomAD v3: 10-8074049-C-G
gnomAD v4: 10-8074049-C-G
MyVariant Identifiers: chr10:g.8116012C>G (hg19) chr10:g.8074049C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8074049C>G , CM000672.2:g.8074049C>G GRCh38
NC_000010.10:g.8116012C>G , CM000672.1:g.8116012C>G GRCh37
NC_000010.9:g.8156018C>G NCBI36
NG_015859.1:g.24346C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.*26C>G ENSP00000341619.3:n.*26C>G
ENST00000379328.9:c.*26C>G MANE Select ENSP00000368632.3:n.*26C>G
ENST00000346208.3:c.*26C>G ENSP00000341619.3:n.*26C>G
ENST00000379328.7:c.*26C>G ENSP00000368632.3:n.*26C>G
ENST00000461472.1:n.880C>G
NM_001002295.1:c.*26C>G NP_001002295.1:n.*26C>G
NM_002051.2:c.*26C>G NP_002042.1:n.*26C>G
XM_005252442.2:c.*26C>G XP_005252499.1:n.*26C>G
XM_005252443.3:c.*26C>G XP_005252500.1:n.*26C>G
XM_005252443.5:c.*26C>G XP_005252500.1:n.*26C>G
NM_001002295.2:c.*26C>G MANE Select NP_001002295.1:n.*26C>G
NM_002051.3:c.*26C>G NP_002042.1:n.*26C>G
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