Canonical Allele Identifier: CA5486954
Gene: ZNF488 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47367851G>A , CM000672.2:g.47367851G>A GRCh38
NC_000010.10:g.48371511C>T , CM000672.1:g.48371511C>T GRCh37
NC_000010.9:g.47991517C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_153034.4:c.979C>T MANE Select NP_694579.1:p.Arg327Trp
ENST00000585316.3:c.979C>T MANE Select ENSP00000462269.1:p.Arg327Trp
NM_001346932.1:c.979C>T NP_001333861.1:p.Arg327Trp
NM_001346932.2:c.979C>T NP_001333861.1:p.Arg327Trp
NM_001346933.1:c.979C>T NP_001333862.1:p.Arg327Trp
NM_001346933.2:c.979C>T NP_001333862.1:p.Arg327Trp
NM_001346934.1:c.979C>T NP_001333863.1:p.Arg327Trp
NM_001346934.2:c.979C>T NP_001333863.1:p.Arg327Trp
NM_001346935.1:c.979C>T NP_001333864.1:p.Arg327Trp
NM_001346935.2:c.979C>T NP_001333864.1:p.Arg327Trp
NM_001346936.1:c.979C>T NP_001333865.1:p.Arg327Trp
NM_001346936.2:c.979C>T NP_001333865.1:p.Arg327Trp
NM_153034.2:c.979C>T NP_694579.1:p.Arg327Trp
NM_153034.3:c.979C>T NP_694579.1:p.Arg327Trp
ENST00000585316.2:c.979C>T ENSP00000462269.1:p.Arg327Trp
ENST00000591025.1:c.658C>T ENSP00000468133.1:p.Arg220Trp
XM_005270313.1:c.979C>T XP_005270370.1:p.Arg327Trp
XM_006717617.2:c.979C>T XP_006717680.1:p.Arg327Trp
XM_006717617.3:c.979C>T XP_006717680.1:p.Arg327Trp
XM_011539244.1:c.979C>T XP_011537546.1:p.Arg327Trp
XM_011539244.2:c.979C>T XP_011537546.1:p.Arg327Trp
XM_011539245.1:c.979C>T XP_011537547.1:p.Arg327Trp
XM_011539246.1:c.979C>T XP_011537548.1:p.Arg327Trp
XM_011539247.1:c.979C>T XP_011537549.1:p.Arg327Trp
XM_017015643.1:c.979C>T XP_016871132.1:p.Arg327Trp
XM_024447789.1:c.979C>T XP_024303557.1:p.Arg327Trp