Canonical Allele Identifier: CA5404400
Gene: GATA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 806434
ClinVar RCV Id: RCV000994348
dbSNP Id: rs747870862
ExAC: 10:8100595 T / C
gnomAD v2: 10-8100595-T-C
gnomAD v3: 10-8058632-T-C
gnomAD v4: 10-8058632-T-C
MyVariant Identifiers: chr10:g.8100595T>C (hg19) chr10:g.8058632T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8058632T>C , CM000672.2:g.8058632T>C GRCh38
NC_000010.10:g.8100595T>C , CM000672.1:g.8100595T>C GRCh37
NC_000010.9:g.8140601T>C NCBI36
NG_015859.1:g.8929T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.569T>C ENSP00000341619.3:p.Leu190Pro
ENST00000379328.9:c.569T>C MANE Select ENSP00000368632.3:p.Leu190Pro
ENST00000346208.3:c.569T>C ENSP00000341619.3:p.Leu190Pro
ENST00000379328.7:c.569T>C ENSP00000368632.3:p.Leu190Pro
ENST00000461472.1:n.234T>C
NM_001002295.1:c.569T>C NP_001002295.1:p.Leu190Pro
NM_002051.2:c.569T>C NP_002042.1:p.Leu190Pro
XM_005252442.2:c.569T>C XP_005252499.1:p.Leu190Pro
XM_005252443.3:c.569T>C XP_005252500.1:p.Leu190Pro
XM_005252443.5:c.569T>C XP_005252500.1:p.Leu190Pro
NM_001002295.2:c.569T>C MANE Select NP_001002295.1:p.Leu190Pro
NM_002051.3:c.569T>C NP_002042.1:p.Leu190Pro
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