Canonical Allele Identifier: CA3873742
Gene: RAB23 HGNC NCBI
COSMIC:
COSM4986637 (not active)
MyVariant.info:
GRCh38 chr6:g.57190556C>T
GRCh37 chr6:g.57055354C>T
Revel Score:
ENST00000317483 0.158
ENST00000468148 (MANE Select) 0.158
gnomAD v2:
6:57055354 C / T
gnomAD v3:
6:57190556 C / T
gnomAD v4:
chr6-57190556-C-T
Joint Max Group AF 0.17732714 (AFR)
Genomes Max Group AF 0.17849718 (AFR)
Exomes Max Group AF 0.17354507 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.57190556C>T , CM000668.2:g.57190556C>T GRCh38
NC_000006.11:g.57055354C>T , CM000668.1:g.57055354C>T GRCh37
NC_000006.10:g.57163313C>T NCBI36
NG_012170.1:g.36725G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000468148.6:c.619G>A MANE Select ENSP00000417610.1:p.Gly207Ser
ENST00000317483.4:c.619G>A ENSP00000320413.3:p.Gly207Ser
ENST00000468148.5:c.619G>A ENSP00000417610.1:p.Gly207Ser
NM_001278666.1:c.619G>A NP_001265595.1:p.Gly207Ser
NM_001278667.1:c.619G>A NP_001265596.1:p.Gly207Ser
NM_001278668.1:c.619G>A NP_001265597.1:p.Gly207Ser
NM_016277.4:c.619G>A NP_057361.3:p.Gly207Ser
NM_183227.2:c.619G>A NP_899050.1:p.Gly207Ser
NR_103822.1:n.478G>A
NM_016277.5:c.619G>A MANE Select NP_057361.3:p.Gly207Ser
NM_001278666.2:c.619G>A NP_001265595.1:p.Gly207Ser
NM_001278667.2:c.619G>A NP_001265596.1:p.Gly207Ser
NM_001278668.2:c.619G>A NP_001265597.1:p.Gly207Ser
NM_183227.3:c.619G>A NP_899050.1:p.Gly207Ser
NR_103822.2:n.471G>A
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