Canonical Allele Identifier: CA494933690

Gene: ARMC5

Linked Data

• MyVariant Identifiers: chr16:g.31474041G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31462720G>A , CM000678.2:g.31462720G>A	GRCh38
NC_000016.9:g.31474041G>A , CM000678.1:g.31474041G>A	GRCh37
NC_000016.8:g.31381542G>A	NCBI36
NG_034258.1:g.9448G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268314.9:c.1173G>A MANE Select	ENSP00000268314.4:p.Val391=
ENST00000268314.8:c.1173G>A	ENSP00000268314.4:p.Val391=
ENST00000408912.7:c.1458G>A	ENSP00000386125.3:p.Val486=
ENST00000457010.6:c.1173G>A	ENSP00000399561.2:p.Val391=
ENST00000538189.5:c.681G>A	ENSP00000443995.2:p.Val227=
ENST00000563544.5:c.1173G>A	ENSP00000456877.1:p.Val391=
ENST00000564900.1:c.213-52G>A
NM_001105247.1:c.1173G>A	NP_001098717.1:p.Val391=
NM_001288767.1:c.1458G>A	NP_001275696.1:p.Val486=
NM_001301820.1:c.1269G>A	NP_001288749.1:p.Val423=
NM_024742.2:c.1173G>A	NP_079018.1:p.Val391=
XM_006721091.1:c.1269G>A	XP_006721154.1:p.Val423=
XM_006721091.3:c.1269G>A	XP_006721154.1:p.Val423=
XM_024450448.1:c.1269G>A	XP_024306216.1:p.Val423=
XM_024450449.1:c.1269G>A	XP_024306217.1:p.Val423=
NM_001105247.2:c.1173G>A MANE Select	NP_001098717.1:p.Val391=
NM_001288767.2:c.1458G>A	NP_001275696.1:p.Val486=