Canonical Allele Identifier: CA375966981
Gene: GATA3 HGNC NCBI

Linked Data

dbSNP Id: rs776412274
gnomAD v2: 10-8100351-G-T
gnomAD v3: 10-8058388-G-T
gnomAD v4: 10-8058388-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8058388G>T , CM000672.2:g.8058388G>T GRCh38
NC_000010.10:g.8100351G>T , CM000672.1:g.8100351G>T GRCh37
NC_000010.9:g.8140357G>T NCBI36
NG_015859.1:g.8685G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.325G>T ENSP00000341619.3:p.Ala109Ser
ENST00000379328.9:c.325G>T MANE Select ENSP00000368632.3:p.Ala109Ser
ENST00000481743.2:c.325G>T ENSP00000493486.1:p.Ala109Ser
ENST00000346208.3:c.325G>T ENSP00000341619.3:p.Ala109Ser
ENST00000379328.7:c.325G>T ENSP00000368632.3:p.Ala109Ser
NM_001002295.1:c.325G>T NP_001002295.1:p.Ala109Ser
NM_002051.2:c.325G>T NP_002042.1:p.Ala109Ser
XM_005252442.2:c.325G>T XP_005252499.1:p.Ala109Ser
XM_005252443.3:c.325G>T XP_005252500.1:p.Ala109Ser
XM_005252443.5:c.325G>T XP_005252500.1:p.Ala109Ser
NM_001002295.2:c.325G>T MANE Select NP_001002295.1:p.Ala109Ser
NM_002051.3:c.325G>T NP_002042.1:p.Ala109Ser