Canonical Allele Identifier: CA5404595
Gene: GATA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 880324
ClinVar RCV Id: RCV001108533
dbSNP Id: rs199951165
ExAC: 10:8116008 G / A
gnomAD v2: 10-8116008-G-A
gnomAD v3: 10-8074045-G-A
gnomAD v4: 10-8074045-G-A
MyVariant Identifiers: chr10:g.8116008G>A (hg19) chr10:g.8074045G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8074045G>A , CM000672.2:g.8074045G>A GRCh38
NC_000010.10:g.8116008G>A , CM000672.1:g.8116008G>A GRCh37
NC_000010.9:g.8156014G>A NCBI36
NG_015859.1:g.24342G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.*22G>A ENSP00000341619.3:n.*22G>A
ENST00000379328.9:c.*22G>A MANE Select ENSP00000368632.3:n.*22G>A
ENST00000346208.3:c.*22G>A ENSP00000341619.3:n.*22G>A
ENST00000379328.7:c.*22G>A ENSP00000368632.3:n.*22G>A
ENST00000461472.1:n.876G>A
NM_001002295.1:c.*22G>A NP_001002295.1:n.*22G>A
NM_002051.2:c.*22G>A NP_002042.1:n.*22G>A
XM_005252442.2:c.*22G>A XP_005252499.1:n.*22G>A
XM_005252443.3:c.*22G>A XP_005252500.1:n.*22G>A
XM_005252443.5:c.*22G>A XP_005252500.1:n.*22G>A
NM_001002295.2:c.*22G>A MANE Select NP_001002295.1:n.*22G>A
NM_002051.3:c.*22G>A NP_002042.1:n.*22G>A
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