Canonical Allele Identifier: CA395733211
Gene: ARMC5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31462521A>C , CM000678.2:g.31462521A>C GRCh38
NC_000016.9:g.31473842A>C , CM000678.1:g.31473842A>C GRCh37
NC_000016.8:g.31381343A>C NCBI36
NG_034258.1:g.9249A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000268314.9:c.974A>C MANE Select ENSP00000268314.4:p.Glu325Ala
ENST00000268314.8:c.974A>C ENSP00000268314.4:p.Glu325Ala
ENST00000408912.7:c.1259A>C ENSP00000386125.3:p.Glu420Ala
ENST00000457010.6:c.974A>C ENSP00000399561.2:p.Glu325Ala
ENST00000538189.5:c.482A>C ENSP00000443995.2:p.Glu161Ala
ENST00000563544.5:c.974A>C ENSP00000456877.1:p.Glu325Ala
ENST00000564900.1:c.213-251A>C
NM_001105247.1:c.974A>C NP_001098717.1:p.Glu325Ala
NM_001288767.1:c.1259A>C NP_001275696.1:p.Glu420Ala
NM_001301820.1:c.1070A>C NP_001288749.1:p.Glu357Ala
NM_024742.2:c.974A>C NP_079018.1:p.Glu325Ala
XM_006721091.1:c.1070A>C XP_006721154.1:p.Glu357Ala
XM_006721091.3:c.1070A>C XP_006721154.1:p.Glu357Ala
XM_024450448.1:c.1070A>C XP_024306216.1:p.Glu357Ala
XM_024450449.1:c.1070A>C XP_024306217.1:p.Glu357Ala
NM_001105247.2:c.974A>C MANE Select NP_001098717.1:p.Glu325Ala
NM_001288767.2:c.1259A>C NP_001275696.1:p.Glu420Ala