Canonical Allele Identifier: CA395733208

Gene: ARMC5

Linked Data

• ClinVar Variation Id: 2597694
• ClinVar RCV Id: RCV003342790
• dbSNP Id: rs1188596696
• gnomAD v2: 16-31473841-G-A
• gnomAD v4: 16-31462520-G-A
• MyVariant Identifiers: chr16:g.31473841G>A (hg19) ; chr16:g.31462520G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31462520G>A , CM000678.2:g.31462520G>A	GRCh38
NC_000016.9:g.31473841G>A , CM000678.1:g.31473841G>A	GRCh37
NC_000016.8:g.31381342G>A	NCBI36
NG_034258.1:g.9248G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268314.9:c.973G>A MANE Select	ENSP00000268314.4:p.Glu325Lys
ENST00000268314.8:c.973G>A	ENSP00000268314.4:p.Glu325Lys
ENST00000408912.7:c.1258G>A	ENSP00000386125.3:p.Glu420Lys
ENST00000457010.6:c.973G>A	ENSP00000399561.2:p.Glu325Lys
ENST00000538189.5:c.481G>A	ENSP00000443995.2:p.Glu161Lys
ENST00000563544.5:c.973G>A	ENSP00000456877.1:p.Glu325Lys
ENST00000564900.1:c.213-252G>A
NM_001105247.1:c.973G>A	NP_001098717.1:p.Glu325Lys
NM_001288767.1:c.1258G>A	NP_001275696.1:p.Glu420Lys
NM_001301820.1:c.1069G>A	NP_001288749.1:p.Glu357Lys
NM_024742.2:c.973G>A	NP_079018.1:p.Glu325Lys
XM_006721091.1:c.1069G>A	XP_006721154.1:p.Glu357Lys
XM_006721091.3:c.1069G>A	XP_006721154.1:p.Glu357Lys
XM_024450448.1:c.1069G>A	XP_024306216.1:p.Glu357Lys
XM_024450449.1:c.1069G>A	XP_024306217.1:p.Glu357Lys
NM_001105247.2:c.973G>A MANE Select	NP_001098717.1:p.Glu325Lys
NM_001288767.2:c.1258G>A	NP_001275696.1:p.Glu420Lys