Canonical Allele Identifier: CA468400884
Gene: GATA3 HGNC NCBI

Linked Data

dbSNP Id: rs2131490085
gnomAD v4: 10-8058627-G-A
MyVariant Identifiers: chr10:g.8100590G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8058627G>A , CM000672.2:g.8058627G>A GRCh38
NC_000010.10:g.8100590G>A , CM000672.1:g.8100590G>A GRCh37
NC_000010.9:g.8140596G>A NCBI36
NG_015859.1:g.8924G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.564G>A ENSP00000341619.3:p.Val188=
ENST00000379328.9:c.564G>A MANE Select ENSP00000368632.3:p.Val188=
ENST00000346208.3:c.564G>A ENSP00000341619.3:p.Val188=
ENST00000379328.7:c.564G>A ENSP00000368632.3:p.Val188=
ENST00000461472.1:n.229G>A
NM_001002295.1:c.564G>A NP_001002295.1:p.Val188=
NM_002051.2:c.564G>A NP_002042.1:p.Val188=
XM_005252442.2:c.564G>A XP_005252499.1:p.Val188=
XM_005252443.3:c.564G>A XP_005252500.1:p.Val188=
XM_005252443.5:c.564G>A XP_005252500.1:p.Val188=
NM_001002295.2:c.564G>A MANE Select NP_001002295.1:p.Val188=
NM_002051.3:c.564G>A NP_002042.1:p.Val188=