Canonical Allele Identifier: CA375973862
Community Standard Title: NM_001002295.2(GATA3):c.916C>T (p.Arg306Ter)
Gene: GATA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8064130C>T , CM000672.2:g.8064130C>T GRCh38
NC_000010.10:g.8106093C>T , CM000672.1:g.8106093C>T GRCh37
NC_000010.9:g.8146099C>T NCBI36
NG_015859.1:g.14427C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001002295.2:c.916C>T MANE Select NP_001002295.1:p.Arg306Ter
ENST00000379328.9:c.916C>T MANE Select ENSP00000368632.3:p.Arg306Ter
NM_001002295.1:c.916C>T NP_001002295.1:p.Arg306Ter
NM_002051.2:c.913C>T NP_002042.1:p.Arg305Ter
NM_002051.3:c.913C>T NP_002042.1:p.Arg305Ter
ENST00000346208.3:c.913C>T ENSP00000341619.3:p.Arg305Ter
ENST00000346208.4:c.913C>T ENSP00000341619.3:p.Arg305Ter
ENST00000379328.7:c.916C>T ENSP00000368632.3:p.Arg306Ter
ENST00000461472.1:n.443+5289C>T
XM_005252442.2:c.916C>T XP_005252499.1:p.Arg306Ter
XM_005252443.3:c.916C>T XP_005252500.1:p.Arg306Ter
XM_005252443.5:c.916C>T XP_005252500.1:p.Arg306Ter