Canonical Allele Identifier: CA364626077

Gene: RAB23

Linked Data

• gnomAD v4: 6-57194775-T-G
• MyVariant Identifiers: chr6:g.57059573T>G (hg19) ; chr6:g.57194775T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.57194775T>G , CM000668.2:g.57194775T>G	GRCh38
NC_000006.11:g.57059573T>G , CM000668.1:g.57059573T>G	GRCh37
NC_000006.10:g.57167532T>G	NCBI36
NG_012170.1:g.32506A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000468148.6:c.476A>C MANE Select	ENSP00000417610.1:p.Asn159Thr
ENST00000317483.4:c.476A>C	ENSP00000320413.3:p.Asn159Thr
ENST00000468148.5:c.476A>C	ENSP00000417610.1:p.Asn159Thr
NM_001278666.1:c.476A>C	NP_001265595.1:p.Asn159Thr
NM_001278667.1:c.476A>C	NP_001265596.1:p.Asn159Thr
NM_001278668.1:c.476A>C	NP_001265597.1:p.Asn159Thr
NM_016277.4:c.476A>C	NP_057361.3:p.Asn159Thr
NM_183227.2:c.476A>C	NP_899050.1:p.Asn159Thr
NR_103822.1:n.341-841A>C
XM_005249179.2:c.399-841A>C	XP_005249236.1:n.399-841A>C
NM_016277.5:c.476A>C MANE Select	NP_057361.3:p.Asn159Thr
NM_001278666.2:c.476A>C	NP_001265595.1:p.Asn159Thr
NM_001278667.2:c.476A>C	NP_001265596.1:p.Asn159Thr
NM_001278668.2:c.476A>C	NP_001265597.1:p.Asn159Thr
NM_183227.3:c.476A>C	NP_899050.1:p.Asn159Thr
NR_103822.2:n.334-841A>C