Canonical Allele Identifier: CA395733499
Gene: ARMC5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31462664C>A , CM000678.2:g.31462664C>A GRCh38
NC_000016.9:g.31473985C>A , CM000678.1:g.31473985C>A GRCh37
NC_000016.8:g.31381486C>A NCBI36
NG_034258.1:g.9392C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000268314.9:c.1117C>A MANE Select ENSP00000268314.4:p.Leu373Ile
ENST00000268314.8:c.1117C>A ENSP00000268314.4:p.Leu373Ile
ENST00000408912.7:c.1402C>A ENSP00000386125.3:p.Leu468Ile
ENST00000457010.6:c.1117C>A ENSP00000399561.2:p.Leu373Ile
ENST00000538189.5:c.625C>A ENSP00000443995.2:p.Leu209Ile
ENST00000563544.5:c.1117C>A ENSP00000456877.1:p.Leu373Ile
ENST00000564900.1:c.213-108C>A
NM_001105247.1:c.1117C>A NP_001098717.1:p.Leu373Ile
NM_001288767.1:c.1402C>A NP_001275696.1:p.Leu468Ile
NM_001301820.1:c.1213C>A NP_001288749.1:p.Leu405Ile
NM_024742.2:c.1117C>A NP_079018.1:p.Leu373Ile
XM_006721091.1:c.1213C>A XP_006721154.1:p.Leu405Ile
XM_006721091.3:c.1213C>A XP_006721154.1:p.Leu405Ile
XM_024450448.1:c.1213C>A XP_024306216.1:p.Leu405Ile
XM_024450449.1:c.1213C>A XP_024306217.1:p.Leu405Ile
NM_001105247.2:c.1117C>A MANE Select NP_001098717.1:p.Leu373Ile
NM_001288767.2:c.1402C>A NP_001275696.1:p.Leu468Ile