Canonical Allele Identifier: CA395733190
Gene: ARMC5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31462512G>C , CM000678.2:g.31462512G>C GRCh38
NC_000016.9:g.31473833G>C , CM000678.1:g.31473833G>C GRCh37
NC_000016.8:g.31381334G>C NCBI36
NG_034258.1:g.9240G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000268314.9:c.965G>C MANE Select ENSP00000268314.4:p.Gly322Ala
ENST00000268314.8:c.965G>C ENSP00000268314.4:p.Gly322Ala
ENST00000408912.7:c.1250G>C ENSP00000386125.3:p.Gly417Ala
ENST00000457010.6:c.965G>C ENSP00000399561.2:p.Gly322Ala
ENST00000538189.5:c.473G>C ENSP00000443995.2:p.Gly158Ala
ENST00000563544.5:c.965G>C ENSP00000456877.1:p.Gly322Ala
ENST00000564900.1:c.213-260G>C
NM_001105247.1:c.965G>C NP_001098717.1:p.Gly322Ala
NM_001288767.1:c.1250G>C NP_001275696.1:p.Gly417Ala
NM_001301820.1:c.1061G>C NP_001288749.1:p.Gly354Ala
NM_024742.2:c.965G>C NP_079018.1:p.Gly322Ala
XM_006721091.1:c.1061G>C XP_006721154.1:p.Gly354Ala
XM_006721091.3:c.1061G>C XP_006721154.1:p.Gly354Ala
XM_024450448.1:c.1061G>C XP_024306216.1:p.Gly354Ala
XM_024450449.1:c.1061G>C XP_024306217.1:p.Gly354Ala
NM_001105247.2:c.965G>C MANE Select NP_001098717.1:p.Gly322Ala
NM_001288767.2:c.1250G>C NP_001275696.1:p.Gly417Ala