Canonical Allele Identifier: CA375975702
Gene: GATA3 HGNC NCBI

Linked Data

dbSNP Id: rs1564405248

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8073864T>G , CM000672.2:g.8073864T>G GRCh38
NC_000010.10:g.8115827T>G , CM000672.1:g.8115827T>G GRCh37
NC_000010.9:g.8155833T>G NCBI36
NG_015859.1:g.24161T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.1173T>G ENSP00000341619.3:p.Phe391Leu
ENST00000379328.9:c.1176T>G MANE Select ENSP00000368632.3:p.Phe392Leu
ENST00000346208.3:c.1173T>G ENSP00000341619.3:p.Phe391Leu
ENST00000379328.7:c.1176T>G ENSP00000368632.3:p.Phe392Leu
ENST00000461472.1:n.695T>G
NM_001002295.1:c.1176T>G NP_001002295.1:p.Phe392Leu
NM_002051.2:c.1173T>G NP_002042.1:p.Phe391Leu
XM_005252442.2:c.1176T>G XP_005252499.1:p.Phe392Leu
XM_005252443.3:c.1176T>G XP_005252500.1:p.Phe392Leu
XM_005252443.5:c.1176T>G XP_005252500.1:p.Phe392Leu
NM_001002295.2:c.1176T>G MANE Select NP_001002295.1:p.Phe392Leu
NM_002051.3:c.1173T>G NP_002042.1:p.Phe391Leu