Canonical Allele Identifier: CA139736142

Gene: RAB23

Linked Data

• ClinVar Variation Id: 2738233
• ClinVar RCV Id: RCV003591138
• dbSNP Id: rs1005271725
• gnomAD v2: 6-57055410-G-T
• gnomAD v3: 6-57190612-G-T
• gnomAD v4: 6-57190612-G-T
• MyVariant Identifiers: chr6:g.57055410G>T (hg19) ; chr6:g.57190612G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.57190612G>T , CM000668.2:g.57190612G>T	GRCh38
NC_000006.11:g.57055410G>T , CM000668.1:g.57055410G>T	GRCh37
NC_000006.10:g.57163369G>T	NCBI36
NG_012170.1:g.36669C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000468148.6:c.575-12C>A MANE Select	ENSP00000417610.1:n.575-12C>A
ENST00000317483.4:c.575-12C>A	ENSP00000320413.3:n.575-12C>A
ENST00000468148.5:c.575-12C>A	ENSP00000417610.1:n.575-12C>A
NM_001278666.1:c.575-12C>A	NP_001265595.1:n.575-12C>A
NM_001278667.1:c.575-12C>A	NP_001265596.1:n.575-12C>A
NM_001278668.1:c.575-12C>A	NP_001265597.1:n.575-12C>A
NM_016277.4:c.575-12C>A	NP_057361.3:n.575-12C>A
NM_183227.2:c.575-12C>A	NP_899050.1:n.575-12C>A
NR_103822.1:n.434-12C>A
NM_016277.5:c.575-12C>A MANE Select	NP_057361.3:n.575-12C>A
NM_001278666.2:c.575-12C>A	NP_001265595.1:n.575-12C>A
NM_001278667.2:c.575-12C>A	NP_001265596.1:n.575-12C>A
NM_001278668.2:c.575-12C>A	NP_001265597.1:n.575-12C>A
NM_183227.3:c.575-12C>A	NP_899050.1:n.575-12C>A
NR_103822.2:n.427-12C>A