Canonical Allele Identifier: CA364625451

Gene: RAB23

Linked Data

• dbSNP Id: rs1388653996
• gnomAD v4: 6-57190567-C-T
• MyVariant Identifiers: chr6:g.57055365C>T (hg19) ; chr6:g.57190567C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.57190567C>T , CM000668.2:g.57190567C>T	GRCh38
NC_000006.11:g.57055365C>T , CM000668.1:g.57055365C>T	GRCh37
NC_000006.10:g.57163324C>T	NCBI36
NG_012170.1:g.36714G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000468148.6:c.608G>A MANE Select	ENSP00000417610.1:p.Gly203Asp
ENST00000317483.4:c.608G>A	ENSP00000320413.3:p.Gly203Asp
ENST00000468148.5:c.608G>A	ENSP00000417610.1:p.Gly203Asp
NM_001278666.1:c.608G>A	NP_001265595.1:p.Gly203Asp
NM_001278667.1:c.608G>A	NP_001265596.1:p.Gly203Asp
NM_001278668.1:c.608G>A	NP_001265597.1:p.Gly203Asp
NM_016277.4:c.608G>A	NP_057361.3:p.Gly203Asp
NM_183227.2:c.608G>A	NP_899050.1:p.Gly203Asp
NR_103822.1:n.467G>A
NM_016277.5:c.608G>A MANE Select	NP_057361.3:p.Gly203Asp
NM_001278666.2:c.608G>A	NP_001265595.1:p.Gly203Asp
NM_001278667.2:c.608G>A	NP_001265596.1:p.Gly203Asp
NM_001278668.2:c.608G>A	NP_001265597.1:p.Gly203Asp
NM_183227.3:c.608G>A	NP_899050.1:p.Gly203Asp
NR_103822.2:n.460G>A