Canonical Allele Identifier: CA3873728
Community Standard Title: NM_016277.5(RAB23):c.712T>G (p.Ter238Glu)
Gene: RAB23 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.57190463A>C , CM000668.2:g.57190463A>C GRCh38
NC_000006.11:g.57055261A>C , CM000668.1:g.57055261A>C GRCh37
NC_000006.10:g.57163220A>C NCBI36
NG_012170.1:g.36818T>G

Transcript Alleles

HGVS Amino-acid Change
NM_016277.5:c.712T>G MANE Select NP_057361.3:p.Ter238Glu
ENST00000468148.6:c.712T>G MANE Select ENSP00000417610.1:p.Ter238Glu
NM_001278666.1:c.712T>G NP_001265595.1:p.Ter238Glu
NM_001278666.2:c.712T>G NP_001265595.1:p.Ter238Glu
NM_001278667.1:c.712T>G NP_001265596.1:p.Ter238Glu
NM_001278667.2:c.712T>G NP_001265596.1:p.Ter238Glu
NM_001278668.1:c.712T>G NP_001265597.1:p.Ter238Glu
NM_001278668.2:c.712T>G NP_001265597.1:p.Ter238Glu
NM_016277.4:c.712T>G NP_057361.3:p.Ter238Glu
NM_183227.2:c.712T>G NP_899050.1:p.Ter238Glu
NM_183227.3:c.712T>G NP_899050.1:p.Ter238Glu
NR_103822.1:n.571T>G
NR_103822.2:n.564T>G
ENST00000317483.4:c.712T>G ENSP00000320413.3:p.Ter238Glu
ENST00000468148.5:c.712T>G ENSP00000417610.1:p.Ter238Glu