Canonical Allele Identifier: CA5404378
Gene: GATA3 HGNC NCBI

Linked Data

dbSNP Id: rs775381986
gnomAD v2: 10-8100494-C-A
gnomAD v4: 10-8058531-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8058531C>A , CM000672.2:g.8058531C>A GRCh38
NC_000010.10:g.8100494C>A , CM000672.1:g.8100494C>A GRCh37
NC_000010.9:g.8140500C>A NCBI36
NG_015859.1:g.8828C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.468C>A ENSP00000341619.3:p.Thr156=
ENST00000379328.9:c.468C>A MANE Select ENSP00000368632.3:p.Thr156=
ENST00000346208.3:c.468C>A ENSP00000341619.3:p.Thr156=
ENST00000379328.7:c.468C>A ENSP00000368632.3:p.Thr156=
ENST00000461472.1:n.133C>A
NM_001002295.1:c.468C>A NP_001002295.1:p.Thr156=
NM_002051.2:c.468C>A NP_002042.1:p.Thr156=
XM_005252442.2:c.468C>A XP_005252499.1:p.Thr156=
XM_005252443.3:c.468C>A XP_005252500.1:p.Thr156=
XM_005252443.5:c.468C>A XP_005252500.1:p.Thr156=
NM_001002295.2:c.468C>A MANE Select NP_001002295.1:p.Thr156=
NM_002051.3:c.468C>A NP_002042.1:p.Thr156=