Canonical Allele Identifier: CA139736143

Gene: RAB23

Linked Data

• dbSNP Id: rs959007517
• gnomAD v2: 6-57055454-G-A
• gnomAD v3: 6-57190656-G-A
• gnomAD v4: 6-57190656-G-A
• MyVariant Identifiers: chr6:g.57055454G>A (hg19) ; chr6:g.57190656G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.57190656G>A , CM000668.2:g.57190656G>A	GRCh38
NC_000006.11:g.57055454G>A , CM000668.1:g.57055454G>A	GRCh37
NC_000006.10:g.57163413G>A	NCBI36
NG_012170.1:g.36625C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000468148.6:c.575-56C>T MANE Select	ENSP00000417610.1:n.575-56C>T
ENST00000317483.4:c.575-56C>T	ENSP00000320413.3:n.575-56C>T
ENST00000468148.5:c.575-56C>T	ENSP00000417610.1:n.575-56C>T
NM_001278666.1:c.575-56C>T	NP_001265595.1:n.575-56C>T
NM_001278667.1:c.575-56C>T	NP_001265596.1:n.575-56C>T
NM_001278668.1:c.575-56C>T	NP_001265597.1:n.575-56C>T
NM_016277.4:c.575-56C>T	NP_057361.3:n.575-56C>T
NM_183227.2:c.575-56C>T	NP_899050.1:n.575-56C>T
NR_103822.1:n.434-56C>T
NM_016277.5:c.575-56C>T MANE Select	NP_057361.3:n.575-56C>T
NM_001278666.2:c.575-56C>T	NP_001265595.1:n.575-56C>T
NM_001278667.2:c.575-56C>T	NP_001265596.1:n.575-56C>T
NM_001278668.2:c.575-56C>T	NP_001265597.1:n.575-56C>T
NM_183227.3:c.575-56C>T	NP_899050.1:n.575-56C>T
NR_103822.2:n.427-56C>T