Canonical Allele Identifier: CA5404387
Gene: GATA3 HGNC NCBI

Linked Data

dbSNP Id: rs753226620
gnomAD v2: 10-8100543-G-T
gnomAD v4: 10-8058580-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8058580G>T , CM000672.2:g.8058580G>T GRCh38
NC_000010.10:g.8100543G>T , CM000672.1:g.8100543G>T GRCh37
NC_000010.9:g.8140549G>T NCBI36
NG_015859.1:g.8877G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.517G>T ENSP00000341619.3:p.Ala173Ser
ENST00000379328.9:c.517G>T MANE Select ENSP00000368632.3:p.Ala173Ser
ENST00000346208.3:c.517G>T ENSP00000341619.3:p.Ala173Ser
ENST00000379328.7:c.517G>T ENSP00000368632.3:p.Ala173Ser
ENST00000461472.1:n.182G>T
NM_001002295.1:c.517G>T NP_001002295.1:p.Ala173Ser
NM_002051.2:c.517G>T NP_002042.1:p.Ala173Ser
XM_005252442.2:c.517G>T XP_005252499.1:p.Ala173Ser
XM_005252443.3:c.517G>T XP_005252500.1:p.Ala173Ser
XM_005252443.5:c.517G>T XP_005252500.1:p.Ala173Ser
NM_001002295.2:c.517G>T MANE Select NP_001002295.1:p.Ala173Ser
NM_002051.3:c.517G>T NP_002042.1:p.Ala173Ser