Canonical Allele Identifier: CA375969063
Gene: GATA3 HGNC NCBI

Linked Data

gnomAD v4: 10-8058575-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8058575G>T , CM000672.2:g.8058575G>T GRCh38
NC_000010.10:g.8100538G>T , CM000672.1:g.8100538G>T GRCh37
NC_000010.9:g.8140544G>T NCBI36
NG_015859.1:g.8872G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.512G>T ENSP00000341619.3:p.Gly171Val
ENST00000379328.9:c.512G>T MANE Select ENSP00000368632.3:p.Gly171Val
ENST00000346208.3:c.512G>T ENSP00000341619.3:p.Gly171Val
ENST00000379328.7:c.512G>T ENSP00000368632.3:p.Gly171Val
ENST00000461472.1:n.177G>T
NM_001002295.1:c.512G>T NP_001002295.1:p.Gly171Val
NM_002051.2:c.512G>T NP_002042.1:p.Gly171Val
XM_005252442.2:c.512G>T XP_005252499.1:p.Gly171Val
XM_005252443.3:c.512G>T XP_005252500.1:p.Gly171Val
XM_005252443.5:c.512G>T XP_005252500.1:p.Gly171Val
NM_001002295.2:c.512G>T MANE Select NP_001002295.1:p.Gly171Val
NM_002051.3:c.512G>T NP_002042.1:p.Gly171Val