Canonical Allele Identifier: CA280639902

Gene: ARMC5

Linked Data

• dbSNP Id: rs1039442244
• gnomAD v3: 16-31462554-A-G
• gnomAD v4: 16-31462554-A-G
• MyVariant Identifiers: chr16:g.31473875A>G (hg19) ; chr16:g.31462554A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31462554A>G , CM000678.2:g.31462554A>G	GRCh38
NC_000016.9:g.31473875A>G , CM000678.1:g.31473875A>G	GRCh37
NC_000016.8:g.31381376A>G	NCBI36
NG_034258.1:g.9282A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268314.9:c.1007A>G MANE Select	ENSP00000268314.4:p.Asp336Gly
ENST00000268314.8:c.1007A>G	ENSP00000268314.4:p.Asp336Gly
ENST00000408912.7:c.1292A>G	ENSP00000386125.3:p.Asp431Gly
ENST00000457010.6:c.1007A>G	ENSP00000399561.2:p.Asp336Gly
ENST00000538189.5:c.515A>G	ENSP00000443995.2:p.Asp172Gly
ENST00000563544.5:c.1007A>G	ENSP00000456877.1:p.Asp336Gly
ENST00000564900.1:c.213-218A>G
NM_001105247.1:c.1007A>G	NP_001098717.1:p.Asp336Gly
NM_001288767.1:c.1292A>G	NP_001275696.1:p.Asp431Gly
NM_001301820.1:c.1103A>G	NP_001288749.1:p.Asp368Gly
NM_024742.2:c.1007A>G	NP_079018.1:p.Asp336Gly
XM_006721091.1:c.1103A>G	XP_006721154.1:p.Asp368Gly
XM_006721091.3:c.1103A>G	XP_006721154.1:p.Asp368Gly
XM_024450448.1:c.1103A>G	XP_024306216.1:p.Asp368Gly
XM_024450449.1:c.1103A>G	XP_024306217.1:p.Asp368Gly
NM_001105247.2:c.1007A>G MANE Select	NP_001098717.1:p.Asp336Gly
NM_001288767.2:c.1292A>G	NP_001275696.1:p.Asp431Gly