Canonical Allele Identifier: CA8029355

Gene: ARMC5

Linked Data

• ClinVar Variation Id: 731845
• ClinVar RCV Id: RCV000906869 ; RCV003968335
• dbSNP Id: rs539998802
• ExAC: 16:31470966 A / G
• gnomAD v2: 16-31470966-A-G
• gnomAD v3: 16-31459645-A-G
• gnomAD v4: 16-31459645-A-G
• MyVariant Identifiers: chr16:g.31470966A>G (hg19) ; chr16:g.31459645A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31459645A>G , CM000678.2:g.31459645A>G	GRCh38
NC_000016.9:g.31470966A>G , CM000678.1:g.31470966A>G	GRCh37
NC_000016.8:g.31378467A>G	NCBI36
NG_034258.1:g.6373A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268314.9:c.121A>G MANE Select	ENSP00000268314.4:p.Ser41Gly
ENST00000268314.8:c.121A>G	ENSP00000268314.4:p.Ser41Gly
ENST00000408912.7:c.406A>G	ENSP00000386125.3:p.Ser136Gly
ENST00000457010.6:c.121A>G	ENSP00000399561.2:p.Ser41Gly
ENST00000538189.5:c.-211-161A>G	ENSP00000443995.2:n.-211-161A>G
ENST00000563544.5:c.121A>G	ENSP00000456877.1:p.Ser41Gly
NM_001105247.1:c.121A>G	NP_001098717.1:p.Ser41Gly
NM_001288767.1:c.406A>G	NP_001275696.1:p.Ser136Gly
NM_001301820.1:c.217A>G	NP_001288749.1:p.Ser73Gly
NM_024742.2:c.121A>G	NP_079018.1:p.Ser41Gly
XM_006721091.1:c.217A>G	XP_006721154.1:p.Ser73Gly
XM_006721091.3:c.217A>G	XP_006721154.1:p.Ser73Gly
XM_024450448.1:c.217A>G	XP_024306216.1:p.Ser73Gly
XM_024450449.1:c.217A>G	XP_024306217.1:p.Ser73Gly
NM_001105247.2:c.121A>G MANE Select	NP_001098717.1:p.Ser41Gly
NM_001288767.2:c.406A>G	NP_001275696.1:p.Ser136Gly