Canonical Allele Identifier: CA364625385

Gene: RAB23

Linked Data

• MyVariant Identifiers: chr6:g.57055333C>G (hg19) ; chr6:g.57190535C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.57190535C>G , CM000668.2:g.57190535C>G	GRCh38
NC_000006.11:g.57055333C>G , CM000668.1:g.57055333C>G	GRCh37
NC_000006.10:g.57163292C>G	NCBI36
NG_012170.1:g.36746G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000468148.6:c.640G>C MANE Select	ENSP00000417610.1:p.Val214Leu
ENST00000317483.4:c.640G>C	ENSP00000320413.3:p.Val214Leu
ENST00000468148.5:c.640G>C	ENSP00000417610.1:p.Val214Leu
NM_001278666.1:c.640G>C	NP_001265595.1:p.Val214Leu
NM_001278667.1:c.640G>C	NP_001265596.1:p.Val214Leu
NM_001278668.1:c.640G>C	NP_001265597.1:p.Val214Leu
NM_016277.4:c.640G>C	NP_057361.3:p.Val214Leu
NM_183227.2:c.640G>C	NP_899050.1:p.Val214Leu
NR_103822.1:n.499G>C
NM_016277.5:c.640G>C MANE Select	NP_057361.3:p.Val214Leu
NM_001278666.2:c.640G>C	NP_001265595.1:p.Val214Leu
NM_001278667.2:c.640G>C	NP_001265596.1:p.Val214Leu
NM_001278668.2:c.640G>C	NP_001265597.1:p.Val214Leu
NM_183227.3:c.640G>C	NP_899050.1:p.Val214Leu
NR_103822.2:n.492G>C