Canonical Allele Identifier: CA395733403

Gene: ARMC5

Linked Data

• gnomAD v4: 16-31462616-C-G
• MyVariant Identifiers: chr16:g.31473937C>G (hg19) ; chr16:g.31462616C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31462616C>G , CM000678.2:g.31462616C>G	GRCh38
NC_000016.9:g.31473937C>G , CM000678.1:g.31473937C>G	GRCh37
NC_000016.8:g.31381438C>G	NCBI36
NG_034258.1:g.9344C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268314.9:c.1069C>G MANE Select	ENSP00000268314.4:p.Arg357Gly
ENST00000268314.8:c.1069C>G	ENSP00000268314.4:p.Arg357Gly
ENST00000408912.7:c.1354C>G	ENSP00000386125.3:p.Arg452Gly
ENST00000457010.6:c.1069C>G	ENSP00000399561.2:p.Arg357Gly
ENST00000538189.5:c.577C>G	ENSP00000443995.2:p.Arg193Gly
ENST00000563544.5:c.1069C>G	ENSP00000456877.1:p.Arg357Gly
ENST00000564900.1:c.213-156C>G
NM_001105247.1:c.1069C>G	NP_001098717.1:p.Arg357Gly
NM_001288767.1:c.1354C>G	NP_001275696.1:p.Arg452Gly
NM_001301820.1:c.1165C>G	NP_001288749.1:p.Arg389Gly
NM_024742.2:c.1069C>G	NP_079018.1:p.Arg357Gly
XM_006721091.1:c.1165C>G	XP_006721154.1:p.Arg389Gly
XM_006721091.3:c.1165C>G	XP_006721154.1:p.Arg389Gly
XM_024450448.1:c.1165C>G	XP_024306216.1:p.Arg389Gly
XM_024450449.1:c.1165C>G	XP_024306217.1:p.Arg389Gly
NM_001105247.2:c.1069C>G MANE Select	NP_001098717.1:p.Arg357Gly
NM_001288767.2:c.1354C>G	NP_001275696.1:p.Arg452Gly