Canonical Allele Identifier: CA375975331
Gene: GATA3 HGNC NCBI

Linked Data

dbSNP Id: rs1485416728
gnomAD v3: 10-8073755-C-T
gnomAD v4: 10-8073755-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8073755C>T , CM000672.2:g.8073755C>T GRCh38
NC_000010.10:g.8115718C>T , CM000672.1:g.8115718C>T GRCh37
NC_000010.9:g.8155724C>T NCBI36
NG_015859.1:g.24052C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000346208.4:c.1064C>T ENSP00000341619.3:p.Thr355Ile
ENST00000379328.9:c.1067C>T MANE Select ENSP00000368632.3:p.Thr356Ile
ENST00000346208.3:c.1064C>T ENSP00000341619.3:p.Thr355Ile
ENST00000379328.7:c.1067C>T ENSP00000368632.3:p.Thr356Ile
ENST00000461472.1:n.586C>T
NM_001002295.1:c.1067C>T NP_001002295.1:p.Thr356Ile
NM_002051.2:c.1064C>T NP_002042.1:p.Thr355Ile
XM_005252442.2:c.1067C>T XP_005252499.1:p.Thr356Ile
XM_005252443.3:c.1067C>T XP_005252500.1:p.Thr356Ile
XM_005252443.5:c.1067C>T XP_005252500.1:p.Thr356Ile
NM_001002295.2:c.1067C>T MANE Select NP_001002295.1:p.Thr356Ile
NM_002051.3:c.1064C>T NP_002042.1:p.Thr355Ile