Canonical Allele Identifier: CA116937
Gene: RAB23 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.57194817A>T
GRCh37 chr6:g.57059615A>T
gnomAD v2:
6:57059615 A / T
gnomAD v3:
6:57194817 A / T
gnomAD v4:
chr6-57194817-A-T
Joint Max Group AF 0.000705 (NFE)
Genomes Max Group AF 0.00050778 (NFE)
Exomes Max Group AF 0.00070858 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.57194817A>T , CM000668.2:g.57194817A>T GRCh38
NC_000006.11:g.57059615A>T , CM000668.1:g.57059615A>T GRCh37
NC_000006.10:g.57167574A>T NCBI36
NG_012170.1:g.32464T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000468148.6:c.434T>A MANE Select ENSP00000417610.1:p.Leu145Ter
ENST00000317483.4:c.434T>A ENSP00000320413.3:p.Leu145Ter
ENST00000468148.5:c.434T>A ENSP00000417610.1:p.Leu145Ter
NM_001278666.1:c.434T>A NP_001265595.1:p.Leu145Ter
NM_001278667.1:c.434T>A NP_001265596.1:p.Leu145Ter
NM_001278668.1:c.434T>A NP_001265597.1:p.Leu145Ter
NM_016277.4:c.434T>A NP_057361.3:p.Leu145Ter
NM_183227.2:c.434T>A NP_899050.1:p.Leu145Ter
NR_103822.1:n.341-883T>A
XM_005249179.2:c.399-883T>A XP_005249236.1:n.399-883T>A
NM_016277.5:c.434T>A MANE Select NP_057361.3:p.Leu145Ter
NM_001278666.2:c.434T>A NP_001265595.1:p.Leu145Ter
NM_001278667.2:c.434T>A NP_001265596.1:p.Leu145Ter
NM_001278668.2:c.434T>A NP_001265597.1:p.Leu145Ter
NM_183227.3:c.434T>A NP_899050.1:p.Leu145Ter
NR_103822.2:n.334-883T>A
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