Canonical Allele Identifier: CA13142231
Gene: GATA3 HGNC NCBI
COSMIC:
COSN6605673 (not active)
MyVariant.info:
GRCh38 chr10:g.8048038G>C
GRCh37 chr10:g.8090001G>C
gnomAD v2:
10:8090001 G / C
gnomAD v3:
10:8048038 G / C
gnomAD v4:
chr10-8048038-G-C
Joint Max Group AF 0.92537486 (EAS)
Genomes Max Group AF 0.92537486 (EAS)
dbSNP:
403029
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8048038G>C , CM000672.2:g.8048038G>C GRCh38
NC_000010.10:g.8090001G>C , CM000672.1:g.8090001G>C GRCh37
NC_000010.9:g.8130007G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000643001.1:c.-370+2523G>C ENSP00000494284.1:n.-370+2523G>C
XM_005252443.3:c.-370+2523G>C XP_005252500.1:n.-370+2523G>C
XM_011519800.1:c.214-121G>C XP_011518102.1:n.214-121G>C
XM_005252443.5:c.-370+2523G>C XP_005252500.1:n.-370+2523G>C
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