Canonical Allele Identifier: CA5404413
Gene: GATA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2504281
ClinVar RCV Id: RCV003231741
dbSNP Id: rs778992882
ExAC: 10:8100639 A / T
gnomAD v2: 10-8100639-A-T
gnomAD v3: 10-8058676-A-T
gnomAD v4: 10-8058676-A-T
MyVariant Identifiers: chr10:g.8100639A>T (hg19) chr10:g.8058676A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8058676A>T , CM000672.2:g.8058676A>T GRCh38
NC_000010.10:g.8100639A>T , CM000672.1:g.8100639A>T GRCh37
NC_000010.9:g.8140645A>T NCBI36
NG_015859.1:g.8973A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.613A>T ENSP00000341619.3:p.Met205Leu
ENST00000379328.9:c.613A>T MANE Select ENSP00000368632.3:p.Met205Leu
ENST00000346208.3:c.613A>T ENSP00000341619.3:p.Met205Leu
ENST00000379328.7:c.613A>T ENSP00000368632.3:p.Met205Leu
ENST00000461472.1:n.278A>T
NM_001002295.1:c.613A>T NP_001002295.1:p.Met205Leu
NM_002051.2:c.613A>T NP_002042.1:p.Met205Leu
XM_005252442.2:c.613A>T XP_005252499.1:p.Met205Leu
XM_005252443.3:c.613A>T XP_005252500.1:p.Met205Leu
XM_005252443.5:c.613A>T XP_005252500.1:p.Met205Leu
NM_001002295.2:c.613A>T MANE Select NP_001002295.1:p.Met205Leu
NM_002051.3:c.613A>T NP_002042.1:p.Met205Leu
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