Canonical Allele Identifier: CA395733219
Gene: ARMC5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31462524T>C , CM000678.2:g.31462524T>C GRCh38
NC_000016.9:g.31473845T>C , CM000678.1:g.31473845T>C GRCh37
NC_000016.8:g.31381346T>C NCBI36
NG_034258.1:g.9252T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000268314.9:c.977T>C MANE Select ENSP00000268314.4:p.Val326Ala
ENST00000268314.8:c.977T>C ENSP00000268314.4:p.Val326Ala
ENST00000408912.7:c.1262T>C ENSP00000386125.3:p.Val421Ala
ENST00000457010.6:c.977T>C ENSP00000399561.2:p.Val326Ala
ENST00000538189.5:c.485T>C ENSP00000443995.2:p.Val162Ala
ENST00000563544.5:c.977T>C ENSP00000456877.1:p.Val326Ala
ENST00000564900.1:c.213-248T>C
NM_001105247.1:c.977T>C NP_001098717.1:p.Val326Ala
NM_001288767.1:c.1262T>C NP_001275696.1:p.Val421Ala
NM_001301820.1:c.1073T>C NP_001288749.1:p.Val358Ala
NM_024742.2:c.977T>C NP_079018.1:p.Val326Ala
XM_006721091.1:c.1073T>C XP_006721154.1:p.Val358Ala
XM_006721091.3:c.1073T>C XP_006721154.1:p.Val358Ala
XM_024450448.1:c.1073T>C XP_024306216.1:p.Val358Ala
XM_024450449.1:c.1073T>C XP_024306217.1:p.Val358Ala
NM_001105247.2:c.977T>C MANE Select NP_001098717.1:p.Val326Ala
NM_001288767.2:c.1262T>C NP_001275696.1:p.Val421Ala