Canonical Allele Identifier: CA8030008

Gene: ARMC5

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31466375C>T , CM000678.2:g.31466375C>T	GRCh38
NC_000016.9:g.31477696C>T , CM000678.1:g.31477696C>T	GRCh37
NC_000016.8:g.31385197C>T	NCBI36
NG_034258.1:g.13103C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268314.9:c.2294C>T MANE Select	ENSP00000268314.4:p.Ala765Val
ENST00000268314.8:c.2294C>T	ENSP00000268314.4:p.Ala765Val
ENST00000408912.7:c.2579C>T	ENSP00000386125.3:p.Ala860Val
ENST00000457010.6:c.*1174C>T	ENSP00000399561.2:n.*1174C>T
ENST00000538189.5:c.1802C>T	ENSP00000443995.2:p.Ala601Val
ENST00000563544.5:c.2294C>T	ENSP00000456877.1:p.Ala765Val
ENST00000564900.1:c.1282C>T
NM_001105247.1:c.2294C>T	NP_001098717.1:p.Ala765Val
NM_001288767.1:c.2579C>T	NP_001275696.1:p.Ala860Val
NM_001301820.1:c.2390C>T	NP_001288749.1:p.Ala797Val
NM_024742.2:c.*1174C>T	NP_079018.1:n.*1174C>T
XM_006721091.1:c.2408C>T	XP_006721154.1:p.Ala803Val
XM_006721091.3:c.2408C>T	XP_006721154.1:p.Ala803Val
XM_024450448.1:c.2408C>T	XP_024306216.1:p.Ala803Val
XM_024450449.1:c.2390C>T	XP_024306217.1:p.Ala797Val
NM_001105247.2:c.2294C>T MANE Select	NP_001098717.1:p.Ala765Val
NM_001288767.2:c.2579C>T	NP_001275696.1:p.Ala860Val