Canonical Allele Identifier: CA375973554
Community Standard Title: NM_001002295.2(GATA3):c.864C>G (p.Cys288Trp)
Gene: GATA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8064078C>G , CM000672.2:g.8064078C>G GRCh38
NC_000010.10:g.8106041C>G , CM000672.1:g.8106041C>G GRCh37
NC_000010.9:g.8146047C>G NCBI36
NG_015859.1:g.14375C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001002295.2:c.864C>G MANE Select NP_001002295.1:p.Cys288Trp
ENST00000379328.9:c.864C>G MANE Select ENSP00000368632.3:p.Cys288Trp
NM_001002295.1:c.864C>G NP_001002295.1:p.Cys288Trp
NM_002051.2:c.861C>G NP_002042.1:p.Cys287Trp
NM_002051.3:c.861C>G NP_002042.1:p.Cys287Trp
ENST00000346208.3:c.861C>G ENSP00000341619.3:p.Cys287Trp
ENST00000346208.4:c.861C>G ENSP00000341619.3:p.Cys287Trp
ENST00000379328.7:c.864C>G ENSP00000368632.3:p.Cys288Trp
ENST00000461472.1:n.443+5237C>G
XM_005252442.2:c.864C>G XP_005252499.1:p.Cys288Trp
XM_005252443.3:c.864C>G XP_005252500.1:p.Cys288Trp
XM_005252443.5:c.864C>G XP_005252500.1:p.Cys288Trp