Canonical Allele Identifier: CA139736523

Gene: RAB23

Linked Data

• dbSNP Id: rs201981516
• gnomAD v3: 6-57194780-A-T
• gnomAD v4: 6-57194780-A-T
• MyVariant Identifiers: chr6:g.57059578A>T (hg19) ; chr6:g.57194780A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.57194780A>T , CM000668.2:g.57194780A>T	GRCh38
NC_000006.11:g.57059578A>T , CM000668.1:g.57059578A>T	GRCh37
NC_000006.10:g.57167537A>T	NCBI36
NG_012170.1:g.32501T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000468148.6:c.471T>A MANE Select	ENSP00000417610.1:p.Asn157Lys
ENST00000317483.4:c.471T>A	ENSP00000320413.3:p.Asn157Lys
ENST00000468148.5:c.471T>A	ENSP00000417610.1:p.Asn157Lys
NM_001278666.1:c.471T>A	NP_001265595.1:p.Asn157Lys
NM_001278667.1:c.471T>A	NP_001265596.1:p.Asn157Lys
NM_001278668.1:c.471T>A	NP_001265597.1:p.Asn157Lys
NM_016277.4:c.471T>A	NP_057361.3:p.Asn157Lys
NM_183227.2:c.471T>A	NP_899050.1:p.Asn157Lys
NR_103822.1:n.341-846T>A
XM_005249179.2:c.399-846T>A	XP_005249236.1:n.399-846T>A
NM_016277.5:c.471T>A MANE Select	NP_057361.3:p.Asn157Lys
NM_001278666.2:c.471T>A	NP_001265595.1:p.Asn157Lys
NM_001278667.2:c.471T>A	NP_001265596.1:p.Asn157Lys
NM_001278668.2:c.471T>A	NP_001265597.1:p.Asn157Lys
NM_183227.3:c.471T>A	NP_899050.1:p.Asn157Lys
NR_103822.2:n.334-846T>A