Canonical Allele Identifier: CA392529511

Gene: RAB27A

Linked Data

• ClinVar Variation Id: 1443147
• ClinVar RCV Id: RCV001987438
• dbSNP Id: rs104894499
• gnomAD v2: 15-55516100-C-T
• gnomAD v3: 15-55223902-C-T
• gnomAD v4: 15-55223902-C-T
• COSMIC: COSM4055741
• MyVariant Identifiers: chr15:g.55516100C>T (hg19) ; chr15:g.55223902C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.55223902C>T , CM000677.2:g.55223902C>T	GRCh38
NC_000015.9:g.55516100C>T , CM000677.1:g.55516100C>T	GRCh37
NC_000015.8:g.53303392C>T	NCBI36
NG_009103.1:g.70902G>A , LRG_96:g.70902G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000697641.1:n.2490G>A
ENST00000697642.1:c.454G>A	ENSP00000513368.1:p.Ala152Thr
ENST00000697643.1:c.454G>A	ENSP00000513369.1:p.Ala152Thr
ENST00000697644.1:n.2622G>A
ENST00000336787.6:c.454G>A MANE Select	ENSP00000337761.1:p.Ala152Thr
ENST00000336787.5:c.454G>A	ENSP00000337761.1:p.Ala152Thr
ENST00000396307.6:c.454G>A	ENSP00000379601.2:p.Ala152Thr
ENST00000564609.5:c.454G>A	ENSP00000455012.1:p.Ala152Thr
ENST00000566877.5:c.454G>A	ENSP00000454695.1:p.Ala152Thr
ENST00000569493.5:c.454G>A	ENSP00000456059.1:p.Ala152Thr
NM_004580.4:c.454G>A	NP_004571.2:p.Ala152Thr
NM_183234.2:c.454G>A	NP_899057.1:p.Ala152Thr
NM_183235.2:c.454G>A	NP_899058.1:p.Ala152Thr
NM_183236.2:c.454G>A	NP_899059.1:p.Ala152Thr
XM_005254576.3:c.454G>A	XP_005254633.1:p.Ala152Thr
XM_011521852.1:c.454G>A	XP_011520154.1:p.Ala152Thr
XM_011521853.1:c.454G>A	XP_011520155.1:p.Ala152Thr
XM_011521854.1:c.454G>A	XP_011520156.1:p.Ala152Thr
XM_011521855.1:c.454G>A	XP_011520157.1:p.Ala152Thr
XM_011521856.1:c.454G>A	XP_011520158.1:p.Ala152Thr
XM_005254576.5:c.454G>A	XP_005254633.1:p.Ala152Thr
XM_011521855.3:c.454G>A	XP_011520157.1:p.Ala152Thr
XM_011521856.2:c.454G>A	XP_011520158.1:p.Ala152Thr
XM_024450009.1:c.454G>A	XP_024305777.1:p.Ala152Thr
NM_183235.3:c.454G>A MANE Select	NP_899058.1:p.Ala152Thr
NM_004580.5:c.454G>A	NP_004571.2:p.Ala152Thr
NM_183236.3:c.454G>A	NP_899059.1:p.Ala152Thr