Canonical Allele Identifier: CA8029588
Gene: ARMC5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2439206
ClinVar RCV Id: RCV003141541
dbSNP Id: rs539440145

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31462547C>T , CM000678.2:g.31462547C>T GRCh38
NC_000016.9:g.31473868C>T , CM000678.1:g.31473868C>T GRCh37
NC_000016.8:g.31381369C>T NCBI36
NG_034258.1:g.9275C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000268314.9:c.1000C>T MANE Select ENSP00000268314.4:p.Arg334Cys
ENST00000268314.8:c.1000C>T ENSP00000268314.4:p.Arg334Cys
ENST00000408912.7:c.1285C>T ENSP00000386125.3:p.Arg429Cys
ENST00000457010.6:c.1000C>T ENSP00000399561.2:p.Arg334Cys
ENST00000538189.5:c.508C>T ENSP00000443995.2:p.Arg170Cys
ENST00000563544.5:c.1000C>T ENSP00000456877.1:p.Arg334Cys
ENST00000564900.1:c.213-225C>T
NM_001105247.1:c.1000C>T NP_001098717.1:p.Arg334Cys
NM_001288767.1:c.1285C>T NP_001275696.1:p.Arg429Cys
NM_001301820.1:c.1096C>T NP_001288749.1:p.Arg366Cys
NM_024742.2:c.1000C>T NP_079018.1:p.Arg334Cys
XM_006721091.1:c.1096C>T XP_006721154.1:p.Arg366Cys
XM_006721091.3:c.1096C>T XP_006721154.1:p.Arg366Cys
XM_024450448.1:c.1096C>T XP_024306216.1:p.Arg366Cys
XM_024450449.1:c.1096C>T XP_024306217.1:p.Arg366Cys
NM_001105247.2:c.1000C>T MANE Select NP_001098717.1:p.Arg334Cys
NM_001288767.2:c.1285C>T NP_001275696.1:p.Arg429Cys