Canonical Allele Identifier: CA8029989

Gene: ARMC5

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31466273C>G , CM000678.2:g.31466273C>G	GRCh38
NC_000016.9:g.31477594C>G , CM000678.1:g.31477594C>G	GRCh37
NC_000016.8:g.31385095C>G	NCBI36
NG_034258.1:g.13001C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001105247.2:c.2192C>G MANE Select	NP_001098717.1:p.Pro731Arg
ENST00000268314.9:c.2192C>G MANE Select	ENSP00000268314.4:p.Pro731Arg
NM_001105247.1:c.2192C>G	NP_001098717.1:p.Pro731Arg
NM_001288767.1:c.2477C>G	NP_001275696.1:p.Pro826Arg
NM_001288767.2:c.2477C>G	NP_001275696.1:p.Pro826Arg
NM_001301820.1:c.2288C>G	NP_001288749.1:p.Pro763Arg
NM_024742.2:c.*1072C>G	NP_079018.1:n.*1072C>G
ENST00000268314.8:c.2192C>G	ENSP00000268314.4:p.Pro731Arg
ENST00000408912.7:c.2477C>G	ENSP00000386125.3:p.Pro826Arg
ENST00000457010.6:c.*1072C>G	ENSP00000399561.2:n.*1072C>G
ENST00000538189.5:c.1700C>G	ENSP00000443995.2:p.Pro567Arg
ENST00000563544.5:c.2192C>G	ENSP00000456877.1:p.Pro731Arg
ENST00000564900.1:c.1180C>G
XM_006721091.1:c.2306C>G	XP_006721154.1:p.Pro769Arg
XM_006721091.3:c.2306C>G	XP_006721154.1:p.Pro769Arg
XM_024450448.1:c.2306C>G	XP_024306216.1:p.Pro769Arg
XM_024450449.1:c.2288C>G	XP_024306217.1:p.Pro763Arg