Canonical Allele Identifier: CA392529849

Gene: RAB27A

Linked Data

• gnomAD v4: 15-55223988-C-A
• MyVariant Identifiers: chr15:g.55516186C>A (hg19) ; chr15:g.55223988C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.55223988C>A , CM000677.2:g.55223988C>A	GRCh38
NC_000015.9:g.55516186C>A , CM000677.1:g.55516186C>A	GRCh37
NC_000015.8:g.53303478C>A	NCBI36
NG_009103.1:g.70816G>T , LRG_96:g.70816G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697641.1:n.2404G>T
ENST00000697642.1:c.368G>T	ENSP00000513368.1:p.Cys123Phe
ENST00000697643.1:c.368G>T	ENSP00000513369.1:p.Cys123Phe
ENST00000697644.1:n.2536G>T
ENST00000336787.6:c.368G>T MANE Select	ENSP00000337761.1:p.Cys123Phe
ENST00000336787.5:c.368G>T	ENSP00000337761.1:p.Cys123Phe
ENST00000396307.6:c.368G>T	ENSP00000379601.2:p.Cys123Phe
ENST00000564609.5:c.368G>T	ENSP00000455012.1:p.Cys123Phe
ENST00000565972.5:c.368G>T	ENSP00000456536.1:p.Cys123Phe
ENST00000566877.5:c.368G>T	ENSP00000454695.1:p.Cys123Phe
ENST00000567380.5:c.368G>T	ENSP00000458127.1:p.Cys123Phe
ENST00000569493.5:c.368G>T	ENSP00000456059.1:p.Cys123Phe
NM_004580.4:c.368G>T	NP_004571.2:p.Cys123Phe
NM_183234.2:c.368G>T	NP_899057.1:p.Cys123Phe
NM_183235.2:c.368G>T	NP_899058.1:p.Cys123Phe
NM_183236.2:c.368G>T	NP_899059.1:p.Cys123Phe
XM_005254576.3:c.368G>T	XP_005254633.1:p.Cys123Phe
XM_011521852.1:c.368G>T	XP_011520154.1:p.Cys123Phe
XM_011521853.1:c.368G>T	XP_011520155.1:p.Cys123Phe
XM_011521854.1:c.368G>T	XP_011520156.1:p.Cys123Phe
XM_011521855.1:c.368G>T	XP_011520157.1:p.Cys123Phe
XM_011521856.1:c.368G>T	XP_011520158.1:p.Cys123Phe
XM_005254576.5:c.368G>T	XP_005254633.1:p.Cys123Phe
XM_011521855.3:c.368G>T	XP_011520157.1:p.Cys123Phe
XM_011521856.2:c.368G>T	XP_011520158.1:p.Cys123Phe
XM_024450009.1:c.368G>T	XP_024305777.1:p.Cys123Phe
NM_183235.3:c.368G>T MANE Select	NP_899058.1:p.Cys123Phe
NM_004580.5:c.368G>T	NP_004571.2:p.Cys123Phe
NM_183236.3:c.368G>T	NP_899059.1:p.Cys123Phe