Canonical Allele Identifier: CA395733352

Gene: ARMC5

Linked Data

• dbSNP Id: rs2082314098
• gnomAD v3: 16-31462590-T-G
• gnomAD v4: 16-31462590-T-G
• MyVariant Identifiers: chr16:g.31473911T>G (hg19) ; chr16:g.31462590T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31462590T>G , CM000678.2:g.31462590T>G	GRCh38
NC_000016.9:g.31473911T>G , CM000678.1:g.31473911T>G	GRCh37
NC_000016.8:g.31381412T>G	NCBI36
NG_034258.1:g.9318T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268314.9:c.1043T>G MANE Select	ENSP00000268314.4:p.Leu348Arg
ENST00000268314.8:c.1043T>G	ENSP00000268314.4:p.Leu348Arg
ENST00000408912.7:c.1328T>G	ENSP00000386125.3:p.Leu443Arg
ENST00000457010.6:c.1043T>G	ENSP00000399561.2:p.Leu348Arg
ENST00000538189.5:c.551T>G	ENSP00000443995.2:p.Leu184Arg
ENST00000563544.5:c.1043T>G	ENSP00000456877.1:p.Leu348Arg
ENST00000564900.1:c.213-182T>G
NM_001105247.1:c.1043T>G	NP_001098717.1:p.Leu348Arg
NM_001288767.1:c.1328T>G	NP_001275696.1:p.Leu443Arg
NM_001301820.1:c.1139T>G	NP_001288749.1:p.Leu380Arg
NM_024742.2:c.1043T>G	NP_079018.1:p.Leu348Arg
XM_006721091.1:c.1139T>G	XP_006721154.1:p.Leu380Arg
XM_006721091.3:c.1139T>G	XP_006721154.1:p.Leu380Arg
XM_024450448.1:c.1139T>G	XP_024306216.1:p.Leu380Arg
XM_024450449.1:c.1139T>G	XP_024306217.1:p.Leu380Arg
NM_001105247.2:c.1043T>G MANE Select	NP_001098717.1:p.Leu348Arg
NM_001288767.2:c.1328T>G	NP_001275696.1:p.Leu443Arg