Canonical Allele Identifier: CA364626847
Community Standard Title: NM_016277.5(RAB23):c.142G>T (p.Glu48Ter)
Gene: RAB23 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.57210239C>A , CM000668.2:g.57210239C>A GRCh38
NC_000006.11:g.57075037C>A , CM000668.1:g.57075037C>A GRCh37
NC_000006.10:g.57182996C>A NCBI36
NG_012170.1:g.17042G>T

Transcript Alleles

HGVS Amino-acid Change
NM_016277.5:c.142G>T MANE Select NP_057361.3:p.Glu48Ter
ENST00000468148.6:c.142G>T MANE Select ENSP00000417610.1:p.Glu48Ter
NM_001278666.1:c.142G>T NP_001265595.1:p.Glu48Ter
NM_001278666.2:c.142G>T NP_001265595.1:p.Glu48Ter
NM_001278667.1:c.142G>T NP_001265596.1:p.Glu48Ter
NM_001278667.2:c.142G>T NP_001265596.1:p.Glu48Ter
NM_001278668.1:c.142G>T NP_001265597.1:p.Glu48Ter
NM_001278668.2:c.142G>T NP_001265597.1:p.Glu48Ter
NM_016277.4:c.142G>T NP_057361.3:p.Glu48Ter
NM_183227.2:c.142G>T NP_899050.1:p.Glu48Ter
NM_183227.3:c.142G>T NP_899050.1:p.Glu48Ter
NR_103822.1:n.327G>T
NR_103822.2:n.320G>T
ENST00000317483.4:c.142G>T ENSP00000320413.3:p.Glu48Ter
ENST00000468148.5:c.142G>T ENSP00000417610.1:p.Glu48Ter
XM_005249179.2:c.142G>T XP_005249236.1:p.Glu48Ter