Canonical Allele Identifier: CA10602375
Community Standard Title: NM_016277.5(RAB23):c.239G>A (p.Arg80Gln)
Gene: RAB23 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.57207630C>T , CM000668.2:g.57207630C>T GRCh38
NC_000006.11:g.57072428C>T , CM000668.1:g.57072428C>T GRCh37
NC_000006.10:g.57180387C>T NCBI36
NG_012170.1:g.19651G>A

Transcript Alleles

HGVS Amino-acid Change
NM_016277.5:c.239G>A MANE Select NP_057361.3:p.Arg80Gln
ENST00000468148.6:c.239G>A MANE Select ENSP00000417610.1:p.Arg80Gln
NM_001278666.1:c.239G>A NP_001265595.1:p.Arg80Gln
NM_001278666.2:c.239G>A NP_001265595.1:p.Arg80Gln
NM_001278667.1:c.239G>A NP_001265596.1:p.Arg80Gln
NM_001278667.2:c.239G>A NP_001265596.1:p.Arg80Gln
NM_001278668.1:c.239G>A NP_001265597.1:p.Arg80Gln
NM_001278668.2:c.239G>A NP_001265597.1:p.Arg80Gln
NM_016277.4:c.239G>A NP_057361.3:p.Arg80Gln
NM_183227.2:c.239G>A NP_899050.1:p.Arg80Gln
NM_183227.3:c.239G>A NP_899050.1:p.Arg80Gln
NR_103822.1:n.340+2596G>A
NR_103822.2:n.333+2596G>A
ENST00000317483.4:c.239G>A ENSP00000320413.3:p.Arg80Gln
ENST00000468148.5:c.239G>A ENSP00000417610.1:p.Arg80Gln
XM_005249179.2:c.239G>A XP_005249236.1:p.Arg80Gln