Canonical Allele Identifier: CA395733124
Gene: ARMC5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31462496G>C , CM000678.2:g.31462496G>C GRCh38
NC_000016.9:g.31473817G>C , CM000678.1:g.31473817G>C GRCh37
NC_000016.8:g.31381318G>C NCBI36
NG_034258.1:g.9224G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000268314.9:c.949G>C MANE Select ENSP00000268314.4:p.Ala317Pro
ENST00000268314.8:c.949G>C ENSP00000268314.4:p.Ala317Pro
ENST00000408912.7:c.1234G>C ENSP00000386125.3:p.Ala412Pro
ENST00000457010.6:c.949G>C ENSP00000399561.2:p.Ala317Pro
ENST00000538189.5:c.457G>C ENSP00000443995.2:p.Ala153Pro
ENST00000563544.5:c.949G>C ENSP00000456877.1:p.Ala317Pro
ENST00000564900.1:c.213-276G>C
NM_001105247.1:c.949G>C NP_001098717.1:p.Ala317Pro
NM_001288767.1:c.1234G>C NP_001275696.1:p.Ala412Pro
NM_001301820.1:c.1045G>C NP_001288749.1:p.Ala349Pro
NM_024742.2:c.949G>C NP_079018.1:p.Ala317Pro
XM_006721091.1:c.1045G>C XP_006721154.1:p.Ala349Pro
XM_006721091.3:c.1045G>C XP_006721154.1:p.Ala349Pro
XM_024450448.1:c.1045G>C XP_024306216.1:p.Ala349Pro
XM_024450449.1:c.1045G>C XP_024306217.1:p.Ala349Pro
NM_001105247.2:c.949G>C MANE Select NP_001098717.1:p.Ala317Pro
NM_001288767.2:c.1234G>C NP_001275696.1:p.Ala412Pro