Canonical Allele Identifier: CA392530791

Gene: RAB27A

Linked Data

• ClinVar Variation Id: 1690309
• ClinVar RCV Id: RCV002251780 ; RCV002264485
• dbSNP Id: rs2140989874
• MyVariant Identifiers: chr15:g.55526997A>T (hg19) ; chr15:g.55234799A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.55234799A>T , CM000677.2:g.55234799A>T	GRCh38
NC_000015.9:g.55526997A>T , CM000677.1:g.55526997A>T	GRCh37
NC_000015.8:g.53314289A>T	NCBI36
NG_009103.1:g.60005T>A , LRG_96:g.60005T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697641.1:n.2172T>A
ENST00000697642.1:c.136T>A	ENSP00000513368.1:p.Phe46Ile
ENST00000697643.1:c.136T>A	ENSP00000513369.1:p.Phe46Ile
ENST00000336787.6:c.136T>A MANE Select	ENSP00000337761.1:p.Phe46Ile
ENST00000336787.5:c.136T>A	ENSP00000337761.1:p.Phe46Ile
ENST00000396307.6:c.136T>A	ENSP00000379601.2:p.Phe46Ile
ENST00000563262.5:c.136T>A	ENSP00000457595.1:p.Phe46Ile
ENST00000564609.5:c.136T>A	ENSP00000455012.1:p.Phe46Ile
ENST00000565972.5:c.136T>A	ENSP00000456536.1:p.Phe46Ile
ENST00000566877.5:c.136T>A	ENSP00000454695.1:p.Phe46Ile
ENST00000567380.5:c.136T>A	ENSP00000458127.1:p.Phe46Ile
ENST00000568803.1:c.136T>A	ENSP00000457517.1:p.Phe46Ile
ENST00000569493.5:c.136T>A	ENSP00000456059.1:p.Phe46Ile
NM_004580.4:c.136T>A	NP_004571.2:p.Phe46Ile
NM_183234.2:c.136T>A	NP_899057.1:p.Phe46Ile
NM_183235.2:c.136T>A	NP_899058.1:p.Phe46Ile
NM_183236.2:c.136T>A	NP_899059.1:p.Phe46Ile
XM_005254576.3:c.136T>A	XP_005254633.1:p.Phe46Ile
XM_011521852.1:c.136T>A	XP_011520154.1:p.Phe46Ile
XM_011521853.1:c.136T>A	XP_011520155.1:p.Phe46Ile
XM_011521854.1:c.136T>A	XP_011520156.1:p.Phe46Ile
XM_011521855.1:c.136T>A	XP_011520157.1:p.Phe46Ile
XM_011521856.1:c.136T>A	XP_011520158.1:p.Phe46Ile
XM_005254576.5:c.136T>A	XP_005254633.1:p.Phe46Ile
XM_011521855.3:c.136T>A	XP_011520157.1:p.Phe46Ile
XM_011521856.2:c.136T>A	XP_011520158.1:p.Phe46Ile
XM_024450009.1:c.136T>A	XP_024305777.1:p.Phe46Ile
NM_183235.3:c.136T>A MANE Select	NP_899058.1:p.Phe46Ile
NM_004580.5:c.136T>A	NP_004571.2:p.Phe46Ile
NM_183236.3:c.136T>A	NP_899059.1:p.Phe46Ile