Canonical Allele Identifier: CA3873855

Gene: RAB23

Linked Data

• ClinVar Variation Id: 357644
• ClinVar RCV Id: RCV000339958 ; RCV000424519 ; RCV001449940 ; RCV003972506
• dbSNP Id: rs45479896
• ExAC: 6:57061345 A / C
• gnomAD v2: 6-57061345-A-C
• gnomAD v3: 6-57196547-A-C
• gnomAD v4: 6-57196547-A-C
• MyVariant Identifiers: chr6:g.57061345A>C (hg19) ; chr6:g.57196547A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.57196547A>C , CM000668.2:g.57196547A>C	GRCh38
NC_000006.11:g.57061345A>C , CM000668.1:g.57061345A>C	GRCh37
NC_000006.10:g.57169304A>C	NCBI36
NG_012170.1:g.30734T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000468148.6:c.301T>G MANE Select	ENSP00000417610.1:p.Ser101Ala
ENST00000317483.4:c.301T>G	ENSP00000320413.3:p.Ser101Ala
ENST00000468148.5:c.301T>G	ENSP00000417610.1:p.Ser101Ala
NM_001278666.1:c.301T>G	NP_001265595.1:p.Ser101Ala
NM_001278667.1:c.301T>G	NP_001265596.1:p.Ser101Ala
NM_001278668.1:c.301T>G	NP_001265597.1:p.Ser101Ala
NM_016277.4:c.301T>G	NP_057361.3:p.Ser101Ala
NM_183227.2:c.301T>G	NP_899050.1:p.Ser101Ala
NR_103822.1:n.341-2613T>G
XM_005249179.2:c.301T>G	XP_005249236.1:p.Ser101Ala
NM_016277.5:c.301T>G MANE Select	NP_057361.3:p.Ser101Ala
NM_001278666.2:c.301T>G	NP_001265595.1:p.Ser101Ala
NM_001278667.2:c.301T>G	NP_001265596.1:p.Ser101Ala
NM_001278668.2:c.301T>G	NP_001265597.1:p.Ser101Ala
NM_183227.3:c.301T>G	NP_899050.1:p.Ser101Ala
NR_103822.2:n.334-2613T>G