Canonical Allele Identifier: CA395732817

Gene: ARMC5

Linked Data

• gnomAD v4: 16-31462443-A-T
• MyVariant Identifiers: chr16:g.31473764A>T (hg19) ; chr16:g.31462443A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31462443A>T , CM000678.2:g.31462443A>T	GRCh38
NC_000016.9:g.31473764A>T , CM000678.1:g.31473764A>T	GRCh37
NC_000016.8:g.31381265A>T	NCBI36
NG_034258.1:g.9171A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268314.9:c.896A>T MANE Select	ENSP00000268314.4:p.Glu299Val
ENST00000268314.8:c.896A>T	ENSP00000268314.4:p.Glu299Val
ENST00000408912.7:c.1181A>T	ENSP00000386125.3:p.Glu394Val
ENST00000457010.6:c.896A>T	ENSP00000399561.2:p.Glu299Val
ENST00000538189.5:c.404A>T	ENSP00000443995.2:p.Glu135Val
ENST00000563544.5:c.896A>T	ENSP00000456877.1:p.Glu299Val
ENST00000564900.1:c.212+248A>T
NM_001105247.1:c.896A>T	NP_001098717.1:p.Glu299Val
NM_001288767.1:c.1181A>T	NP_001275696.1:p.Glu394Val
NM_001301820.1:c.992A>T	NP_001288749.1:p.Glu331Val
NM_024742.2:c.896A>T	NP_079018.1:p.Glu299Val
XM_006721091.1:c.992A>T	XP_006721154.1:p.Glu331Val
XM_006721091.3:c.992A>T	XP_006721154.1:p.Glu331Val
XM_024450448.1:c.992A>T	XP_024306216.1:p.Glu331Val
XM_024450449.1:c.992A>T	XP_024306217.1:p.Glu331Val
NM_001105247.2:c.896A>T MANE Select	NP_001098717.1:p.Glu299Val
NM_001288767.2:c.1181A>T	NP_001275696.1:p.Glu394Val