Canonical Allele Identifier: CA395733037

Gene: ARMC5

Linked Data

• gnomAD v4: 16-31462482-G-A
• MyVariant Identifiers: chr16:g.31473803G>A (hg19) ; chr16:g.31462482G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31462482G>A , CM000678.2:g.31462482G>A	GRCh38
NC_000016.9:g.31473803G>A , CM000678.1:g.31473803G>A	GRCh37
NC_000016.8:g.31381304G>A	NCBI36
NG_034258.1:g.9210G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268314.9:c.935G>A MANE Select	ENSP00000268314.4:p.Gly312Asp
ENST00000268314.8:c.935G>A	ENSP00000268314.4:p.Gly312Asp
ENST00000408912.7:c.1220G>A	ENSP00000386125.3:p.Gly407Asp
ENST00000457010.6:c.935G>A	ENSP00000399561.2:p.Gly312Asp
ENST00000538189.5:c.443G>A	ENSP00000443995.2:p.Gly148Asp
ENST00000563544.5:c.935G>A	ENSP00000456877.1:p.Gly312Asp
ENST00000564900.1:c.212+287G>A
NM_001105247.1:c.935G>A	NP_001098717.1:p.Gly312Asp
NM_001288767.1:c.1220G>A	NP_001275696.1:p.Gly407Asp
NM_001301820.1:c.1031G>A	NP_001288749.1:p.Gly344Asp
NM_024742.2:c.935G>A	NP_079018.1:p.Gly312Asp
XM_006721091.1:c.1031G>A	XP_006721154.1:p.Gly344Asp
XM_006721091.3:c.1031G>A	XP_006721154.1:p.Gly344Asp
XM_024450448.1:c.1031G>A	XP_024306216.1:p.Gly344Asp
XM_024450449.1:c.1031G>A	XP_024306217.1:p.Gly344Asp
NM_001105247.2:c.935G>A MANE Select	NP_001098717.1:p.Gly312Asp
NM_001288767.2:c.1220G>A	NP_001275696.1:p.Gly407Asp