Canonical Allele Identifier: CA202464327
Gene: GATA3 HGNC NCBI

Linked Data

dbSNP Id: rs35011589

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8073937C>G , CM000672.2:g.8073937C>G GRCh38
NC_000010.10:g.8115900C>G , CM000672.1:g.8115900C>G GRCh37
NC_000010.9:g.8155906C>G NCBI36
NG_015859.1:g.24234C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.1246C>G ENSP00000341619.3:p.Leu416Val
ENST00000379328.9:c.1249C>G MANE Select ENSP00000368632.3:p.Leu417Val
ENST00000346208.3:c.1246C>G ENSP00000341619.3:p.Leu416Val
ENST00000379328.7:c.1249C>G ENSP00000368632.3:p.Leu417Val
ENST00000461472.1:n.768C>G
NM_001002295.1:c.1249C>G NP_001002295.1:p.Leu417Val
NM_002051.2:c.1246C>G NP_002042.1:p.Leu416Val
XM_005252442.2:c.1249C>G XP_005252499.1:p.Leu417Val
XM_005252443.3:c.1249C>G XP_005252500.1:p.Leu417Val
XM_005252443.5:c.1249C>G XP_005252500.1:p.Leu417Val
NM_001002295.2:c.1249C>G MANE Select NP_001002295.1:p.Leu417Val
NM_002051.3:c.1246C>G NP_002042.1:p.Leu416Val