Canonical Allele Identifier: CA3873747

Gene: RAB23

Linked Data

• ClinVar Variation Id: 1158043
• ClinVar RCV Id: RCV001501304
• dbSNP Id: rs771204930
• ExAC: 6:57055367 G / A
• gnomAD v2: 6-57055367-G-A
• gnomAD v3: 6-57190569-G-A
• gnomAD v4: 6-57190569-G-A
• MyVariant Identifiers: chr6:g.57055367G>A (hg19) ; chr6:g.57190569G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.57190569G>A , CM000668.2:g.57190569G>A	GRCh38
NC_000006.11:g.57055367G>A , CM000668.1:g.57055367G>A	GRCh37
NC_000006.10:g.57163326G>A	NCBI36
NG_012170.1:g.36712C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000468148.6:c.606C>T MANE Select	ENSP00000417610.1:p.Ser202=
ENST00000317483.4:c.606C>T	ENSP00000320413.3:p.Ser202=
ENST00000468148.5:c.606C>T	ENSP00000417610.1:p.Ser202=
NM_001278666.1:c.606C>T	NP_001265595.1:p.Ser202=
NM_001278667.1:c.606C>T	NP_001265596.1:p.Ser202=
NM_001278668.1:c.606C>T	NP_001265597.1:p.Ser202=
NM_016277.4:c.606C>T	NP_057361.3:p.Ser202=
NM_183227.2:c.606C>T	NP_899050.1:p.Ser202=
NR_103822.1:n.465C>T
NM_016277.5:c.606C>T MANE Select	NP_057361.3:p.Ser202=
NM_001278666.2:c.606C>T	NP_001265595.1:p.Ser202=
NM_001278667.2:c.606C>T	NP_001265596.1:p.Ser202=
NM_001278668.2:c.606C>T	NP_001265597.1:p.Ser202=
NM_183227.3:c.606C>T	NP_899050.1:p.Ser202=
NR_103822.2:n.458C>T