Canonical Allele Identifier: CA3873783
Community Standard Title: NM_016277.5(RAB23):c.534T>C (p.Ala178=)
Gene: RAB23 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.57193882A>G , CM000668.2:g.57193882A>G GRCh38
NC_000006.11:g.57058680A>G , CM000668.1:g.57058680A>G GRCh37
NC_000006.10:g.57166639A>G NCBI36
NG_012170.1:g.33399T>C

Transcript Alleles

HGVS Amino-acid Change
NM_016277.5:c.534T>C MANE Select NP_057361.3:p.Ala178=
ENST00000468148.6:c.534T>C MANE Select ENSP00000417610.1:p.Ala178=
NM_001278666.1:c.534T>C NP_001265595.1:p.Ala178=
NM_001278666.2:c.534T>C NP_001265595.1:p.Ala178=
NM_001278667.1:c.534T>C NP_001265596.1:p.Ala178=
NM_001278667.2:c.534T>C NP_001265596.1:p.Ala178=
NM_001278668.1:c.534T>C NP_001265597.1:p.Ala178=
NM_001278668.2:c.534T>C NP_001265597.1:p.Ala178=
NM_016277.4:c.534T>C NP_057361.3:p.Ala178=
NM_183227.2:c.534T>C NP_899050.1:p.Ala178=
NM_183227.3:c.534T>C NP_899050.1:p.Ala178=
NR_103822.1:n.393T>C
NR_103822.2:n.386T>C
ENST00000317483.4:c.534T>C ENSP00000320413.3:p.Ala178=
ENST00000468148.5:c.534T>C ENSP00000417610.1:p.Ala178=
XM_005249179.2:c.*46T>C XP_005249236.1:n.*46T>C