Canonical Allele Identifier: CA159914
Gene: GATA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 134469
ClinVar RCV Id: RCV000121151 RCV002515871
dbSNP Id: rs587778379
ExAC: 10:8100474 C / A
gnomAD v2: 10-8100474-C-A
gnomAD v3: 10-8058511-C-A
gnomAD v4: 10-8058511-C-A
MyVariant Identifiers: chr10:g.8100474C>A (hg19) chr10:g.8058511C>A (hg38)
PubMed: PMID:24728327
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8058511C>A , CM000672.2:g.8058511C>A GRCh38
NC_000010.10:g.8100474C>A , CM000672.1:g.8100474C>A GRCh37
NC_000010.9:g.8140480C>A NCBI36
NG_015859.1:g.8808C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.448C>A ENSP00000341619.3:p.Leu150Ile
ENST00000379328.9:c.448C>A MANE Select ENSP00000368632.3:p.Leu150Ile
ENST00000346208.3:c.448C>A ENSP00000341619.3:p.Leu150Ile
ENST00000379328.7:c.448C>A ENSP00000368632.3:p.Leu150Ile
ENST00000461472.1:n.113C>A
NM_001002295.1:c.448C>A NP_001002295.1:p.Leu150Ile
NM_002051.2:c.448C>A NP_002042.1:p.Leu150Ile
XM_005252442.2:c.448C>A XP_005252499.1:p.Leu150Ile
XM_005252443.3:c.448C>A XP_005252500.1:p.Leu150Ile
XM_005252443.5:c.448C>A XP_005252500.1:p.Leu150Ile
NM_001002295.2:c.448C>A MANE Select NP_001002295.1:p.Leu150Ile
NM_002051.3:c.448C>A NP_002042.1:p.Leu150Ile
Search 100 bp 5'
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