Canonical Allele Identifier: CA9321178

Gene: ARMC6

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.19057462C>T , CM000681.2:g.19057462C>T	GRCh38
NC_000019.9:g.19168271C>T , CM000681.1:g.19168271C>T	GRCh37
NC_000019.8:g.19029271C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001199196.2:c.1340C>T MANE Select	NP_001186125.1:p.Ala447Val
ENST00000535612.6:c.1340C>T MANE Select	ENSP00000444156.1:p.Ala447Val
NM_001199196.1:c.1340C>T	NP_001186125.1:p.Ala447Val
NM_033415.3:c.1265C>T	NP_219483.1:p.Ala422Val
NM_033415.4:c.1265C>T	NP_219483.1:p.Ala422Val
ENST00000269932.10:c.1265C>T	ENSP00000269932.6:p.Ala422Val
ENST00000392335.6:c.1265C>T	ENSP00000376147.2:p.Ala422Val
ENST00000392336.7:c.1340C>T	ENSP00000376148.3:p.Ala447Val
ENST00000535478.5:c.270C>T
ENST00000535612.5:c.1340C>T	ENSP00000444156.1:p.Ala447Val
ENST00000535795.1:c.379C>T
ENST00000540634.2:c.78C>T
ENST00000546344.5:c.1061C>T	ENSP00000444341.1:p.Ala354Val
XM_005260157.2:c.1265C>T	XP_005260214.1:p.Ala422Val
XM_005260157.3:c.1265C>T	XP_005260214.1:p.Ala422Val
XM_005260158.2:c.1265C>T	XP_005260215.1:p.Ala422Val
XM_011528439.1:c.*28C>T	XP_011526741.1:n.*28C>T
XM_017027484.2:c.*28C>T	XP_016882973.1:n.*28C>T
XM_017027485.2:c.1265C>T	XP_016882974.1:p.Ala422Val
XR_001753798.2:n.2202C>T