Canonical Allele Identifier: CA364625447

Gene: RAB23

Linked Data

• gnomAD v4: 6-57190565-G-C
• MyVariant Identifiers: chr6:g.57055363G>C (hg19) ; chr6:g.57190565G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.57190565G>C , CM000668.2:g.57190565G>C	GRCh38
NC_000006.11:g.57055363G>C , CM000668.1:g.57055363G>C	GRCh37
NC_000006.10:g.57163322G>C	NCBI36
NG_012170.1:g.36716C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000468148.6:c.610C>G MANE Select	ENSP00000417610.1:p.Gln204Glu
ENST00000317483.4:c.610C>G	ENSP00000320413.3:p.Gln204Glu
ENST00000468148.5:c.610C>G	ENSP00000417610.1:p.Gln204Glu
NM_001278666.1:c.610C>G	NP_001265595.1:p.Gln204Glu
NM_001278667.1:c.610C>G	NP_001265596.1:p.Gln204Glu
NM_001278668.1:c.610C>G	NP_001265597.1:p.Gln204Glu
NM_016277.4:c.610C>G	NP_057361.3:p.Gln204Glu
NM_183227.2:c.610C>G	NP_899050.1:p.Gln204Glu
NR_103822.1:n.469C>G
NM_016277.5:c.610C>G MANE Select	NP_057361.3:p.Gln204Glu
NM_001278666.2:c.610C>G	NP_001265595.1:p.Gln204Glu
NM_001278667.2:c.610C>G	NP_001265596.1:p.Gln204Glu
NM_001278668.2:c.610C>G	NP_001265597.1:p.Gln204Glu
NM_183227.3:c.610C>G	NP_899050.1:p.Gln204Glu
NR_103822.2:n.462C>G