Canonical Allele Identifier: CA450630869
Gene: RAB23 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.57055361C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.57190563C>T , CM000668.2:g.57190563C>T GRCh38
NC_000006.11:g.57055361C>T , CM000668.1:g.57055361C>T GRCh37
NC_000006.10:g.57163320C>T NCBI36
NG_012170.1:g.36718G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000468148.6:c.612G>A MANE Select ENSP00000417610.1:p.Gln204=
ENST00000317483.4:c.612G>A ENSP00000320413.3:p.Gln204=
ENST00000468148.5:c.612G>A ENSP00000417610.1:p.Gln204=
NM_001278666.1:c.612G>A NP_001265595.1:p.Gln204=
NM_001278667.1:c.612G>A NP_001265596.1:p.Gln204=
NM_001278668.1:c.612G>A NP_001265597.1:p.Gln204=
NM_016277.4:c.612G>A NP_057361.3:p.Gln204=
NM_183227.2:c.612G>A NP_899050.1:p.Gln204=
NR_103822.1:n.471G>A
NM_016277.5:c.612G>A MANE Select NP_057361.3:p.Gln204=
NM_001278666.2:c.612G>A NP_001265595.1:p.Gln204=
NM_001278667.2:c.612G>A NP_001265596.1:p.Gln204=
NM_001278668.2:c.612G>A NP_001265597.1:p.Gln204=
NM_183227.3:c.612G>A NP_899050.1:p.Gln204=
NR_103822.2:n.464G>A