Canonical Allele Identifier: CA375975869
Gene: GATA3 HGNC NCBI

Linked Data

gnomAD v4: 10-8073940-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8073940A>G , CM000672.2:g.8073940A>G GRCh38
NC_000010.10:g.8115903A>G , CM000672.1:g.8115903A>G GRCh37
NC_000010.9:g.8155909A>G NCBI36
NG_015859.1:g.24237A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.1249A>G ENSP00000341619.3:p.Thr417Ala
ENST00000379328.9:c.1252A>G MANE Select ENSP00000368632.3:p.Thr418Ala
ENST00000346208.3:c.1249A>G ENSP00000341619.3:p.Thr417Ala
ENST00000379328.7:c.1252A>G ENSP00000368632.3:p.Thr418Ala
ENST00000461472.1:n.771A>G
NM_001002295.1:c.1252A>G NP_001002295.1:p.Thr418Ala
NM_002051.2:c.1249A>G NP_002042.1:p.Thr417Ala
XM_005252442.2:c.1252A>G XP_005252499.1:p.Thr418Ala
XM_005252443.3:c.1252A>G XP_005252500.1:p.Thr418Ala
XM_005252443.5:c.1252A>G XP_005252500.1:p.Thr418Ala
NM_001002295.2:c.1252A>G MANE Select NP_001002295.1:p.Thr418Ala
NM_002051.3:c.1249A>G NP_002042.1:p.Thr417Ala