Canonical Allele Identifier: CA468401130
Gene: GATA3 HGNC NCBI

Linked Data

dbSNP Id: rs2131522790
gnomAD v4: 10-8073978-C-A
MyVariant Identifiers: chr10:g.8115941C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8073978C>A , CM000672.2:g.8073978C>A GRCh38
NC_000010.10:g.8115941C>A , CM000672.1:g.8115941C>A GRCh37
NC_000010.9:g.8155947C>A NCBI36
NG_015859.1:g.24275C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.1287C>A ENSP00000341619.3:p.Ser429=
ENST00000379328.9:c.1290C>A MANE Select ENSP00000368632.3:p.Ser430=
ENST00000346208.3:c.1287C>A ENSP00000341619.3:p.Ser429=
ENST00000379328.7:c.1290C>A ENSP00000368632.3:p.Ser430=
ENST00000461472.1:n.809C>A
NM_001002295.1:c.1290C>A NP_001002295.1:p.Ser430=
NM_002051.2:c.1287C>A NP_002042.1:p.Ser429=
XM_005252442.2:c.1290C>A XP_005252499.1:p.Ser430=
XM_005252443.3:c.1290C>A XP_005252500.1:p.Ser430=
XM_005252443.5:c.1290C>A XP_005252500.1:p.Ser430=
NM_001002295.2:c.1290C>A MANE Select NP_001002295.1:p.Ser430=
NM_002051.3:c.1287C>A NP_002042.1:p.Ser429=