Canonical Allele Identifier: CA567544135

Gene: RAB23

Linked Data

• dbSNP Id: rs773146082
• gnomAD v2: 6-57055438-G-C
• gnomAD v3: 6-57190640-G-C
• gnomAD v4: 6-57190640-G-C
• MyVariant Identifiers: chr6:g.57055438G>C (hg19) ; chr6:g.57190640G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.57190640G>C , CM000668.2:g.57190640G>C	GRCh38
NC_000006.11:g.57055438G>C , CM000668.1:g.57055438G>C	GRCh37
NC_000006.10:g.57163397G>C	NCBI36
NG_012170.1:g.36641C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000468148.6:c.575-40C>G MANE Select	ENSP00000417610.1:n.575-40C>G
ENST00000317483.4:c.575-40C>G	ENSP00000320413.3:n.575-40C>G
ENST00000468148.5:c.575-40C>G	ENSP00000417610.1:n.575-40C>G
NM_001278666.1:c.575-40C>G	NP_001265595.1:n.575-40C>G
NM_001278667.1:c.575-40C>G	NP_001265596.1:n.575-40C>G
NM_001278668.1:c.575-40C>G	NP_001265597.1:n.575-40C>G
NM_016277.4:c.575-40C>G	NP_057361.3:n.575-40C>G
NM_183227.2:c.575-40C>G	NP_899050.1:n.575-40C>G
NR_103822.1:n.434-40C>G
NM_016277.5:c.575-40C>G MANE Select	NP_057361.3:n.575-40C>G
NM_001278666.2:c.575-40C>G	NP_001265595.1:n.575-40C>G
NM_001278667.2:c.575-40C>G	NP_001265596.1:n.575-40C>G
NM_001278668.2:c.575-40C>G	NP_001265597.1:n.575-40C>G
NM_183227.3:c.575-40C>G	NP_899050.1:n.575-40C>G
NR_103822.2:n.427-40C>G