Canonical Allele Identifier: CA5404380
Gene: GATA3 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.8058543C>G
GRCh37 chr10:g.8100506C>G
Revel Score:
ENST00000379328 (MANE Select) 0.548
ENST00000346208 0.548
gnomAD v2:
10:8100506 C / G
gnomAD v3:
10:8058543 C / G
gnomAD v4:
chr10-8058543-C-G
Joint Max Group AF 0.00205276 (MID)
Genomes Max Group AF 0.00021805 (NFE)
Exomes Max Group AF 0.00215704 (MID)
ClinVar RCV:
RCV000268412
RCV001859788
ClinVar Variation:
301121
dbSNP:
143627754
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8058543C>G , CM000672.2:g.8058543C>G GRCh38
NC_000010.10:g.8100506C>G , CM000672.1:g.8100506C>G GRCh37
NC_000010.9:g.8140512C>G NCBI36
NG_015859.1:g.8840C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.480C>G ENSP00000341619.3:p.Asp160Glu
ENST00000379328.9:c.480C>G MANE Select ENSP00000368632.3:p.Asp160Glu
ENST00000346208.3:c.480C>G ENSP00000341619.3:p.Asp160Glu
ENST00000379328.7:c.480C>G ENSP00000368632.3:p.Asp160Glu
ENST00000461472.1:n.145C>G
NM_001002295.1:c.480C>G NP_001002295.1:p.Asp160Glu
NM_002051.2:c.480C>G NP_002042.1:p.Asp160Glu
XM_005252442.2:c.480C>G XP_005252499.1:p.Asp160Glu
XM_005252443.3:c.480C>G XP_005252500.1:p.Asp160Glu
XM_005252443.5:c.480C>G XP_005252500.1:p.Asp160Glu
NM_001002295.2:c.480C>G MANE Select NP_001002295.1:p.Asp160Glu
NM_002051.3:c.480C>G NP_002042.1:p.Asp160Glu
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