Canonical Allele Identifier: CA395733345

Gene: ARMC5

Linked Data

• MyVariant Identifiers: chr16:g.31473908C>A (hg19) ; chr16:g.31462587C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31462587C>A , CM000678.2:g.31462587C>A	GRCh38
NC_000016.9:g.31473908C>A , CM000678.1:g.31473908C>A	GRCh37
NC_000016.8:g.31381409C>A	NCBI36
NG_034258.1:g.9315C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268314.9:c.1040C>A MANE Select	ENSP00000268314.4:p.Pro347His
ENST00000268314.8:c.1040C>A	ENSP00000268314.4:p.Pro347His
ENST00000408912.7:c.1325C>A	ENSP00000386125.3:p.Pro442His
ENST00000457010.6:c.1040C>A	ENSP00000399561.2:p.Pro347His
ENST00000538189.5:c.548C>A	ENSP00000443995.2:p.Pro183His
ENST00000563544.5:c.1040C>A	ENSP00000456877.1:p.Pro347His
ENST00000564900.1:c.213-185C>A
NM_001105247.1:c.1040C>A	NP_001098717.1:p.Pro347His
NM_001288767.1:c.1325C>A	NP_001275696.1:p.Pro442His
NM_001301820.1:c.1136C>A	NP_001288749.1:p.Pro379His
NM_024742.2:c.1040C>A	NP_079018.1:p.Pro347His
XM_006721091.1:c.1136C>A	XP_006721154.1:p.Pro379His
XM_006721091.3:c.1136C>A	XP_006721154.1:p.Pro379His
XM_024450448.1:c.1136C>A	XP_024306216.1:p.Pro379His
XM_024450449.1:c.1136C>A	XP_024306217.1:p.Pro379His
NM_001105247.2:c.1040C>A MANE Select	NP_001098717.1:p.Pro347His
NM_001288767.2:c.1325C>A	NP_001275696.1:p.Pro442His