Canonical Allele Identifier: CA395733286
Gene: ARMC5 HGNC NCBI

Linked Data

ClinVar Variation Id: 3129649
ClinVar RCV Id: RCV004417994

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31462559A>G , CM000678.2:g.31462559A>G GRCh38
NC_000016.9:g.31473880A>G , CM000678.1:g.31473880A>G GRCh37
NC_000016.8:g.31381381A>G NCBI36
NG_034258.1:g.9287A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000268314.9:c.1012A>G MANE Select ENSP00000268314.4:p.Asn338Asp
ENST00000268314.8:c.1012A>G ENSP00000268314.4:p.Asn338Asp
ENST00000408912.7:c.1297A>G ENSP00000386125.3:p.Asn433Asp
ENST00000457010.6:c.1012A>G ENSP00000399561.2:p.Asn338Asp
ENST00000538189.5:c.520A>G ENSP00000443995.2:p.Asn174Asp
ENST00000563544.5:c.1012A>G ENSP00000456877.1:p.Asn338Asp
ENST00000564900.1:c.213-213A>G
NM_001105247.1:c.1012A>G NP_001098717.1:p.Asn338Asp
NM_001288767.1:c.1297A>G NP_001275696.1:p.Asn433Asp
NM_001301820.1:c.1108A>G NP_001288749.1:p.Asn370Asp
NM_024742.2:c.1012A>G NP_079018.1:p.Asn338Asp
XM_006721091.1:c.1108A>G XP_006721154.1:p.Asn370Asp
XM_006721091.3:c.1108A>G XP_006721154.1:p.Asn370Asp
XM_024450448.1:c.1108A>G XP_024306216.1:p.Asn370Asp
XM_024450449.1:c.1108A>G XP_024306217.1:p.Asn370Asp
NM_001105247.2:c.1012A>G MANE Select NP_001098717.1:p.Asn338Asp
NM_001288767.2:c.1297A>G NP_001275696.1:p.Asn433Asp