Canonical Allele Identifier: CA280639928

Gene: ARMC5

Linked Data

• dbSNP Id: rs997822943
• gnomAD v4: 16-31462573-A-G
• MyVariant Identifiers: chr16:g.31473894A>G (hg19) ; chr16:g.31462573A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31462573A>G , CM000678.2:g.31462573A>G	GRCh38
NC_000016.9:g.31473894A>G , CM000678.1:g.31473894A>G	GRCh37
NC_000016.8:g.31381395A>G	NCBI36
NG_034258.1:g.9301A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268314.9:c.1026A>G MANE Select	ENSP00000268314.4:p.Pro342=
ENST00000268314.8:c.1026A>G	ENSP00000268314.4:p.Pro342=
ENST00000408912.7:c.1311A>G	ENSP00000386125.3:p.Pro437=
ENST00000457010.6:c.1026A>G	ENSP00000399561.2:p.Pro342=
ENST00000538189.5:c.534A>G	ENSP00000443995.2:p.Pro178=
ENST00000563544.5:c.1026A>G	ENSP00000456877.1:p.Pro342=
ENST00000564900.1:c.213-199A>G
NM_001105247.1:c.1026A>G	NP_001098717.1:p.Pro342=
NM_001288767.1:c.1311A>G	NP_001275696.1:p.Pro437=
NM_001301820.1:c.1122A>G	NP_001288749.1:p.Pro374=
NM_024742.2:c.1026A>G	NP_079018.1:p.Pro342=
XM_006721091.1:c.1122A>G	XP_006721154.1:p.Pro374=
XM_006721091.3:c.1122A>G	XP_006721154.1:p.Pro374=
XM_024450448.1:c.1122A>G	XP_024306216.1:p.Pro374=
XM_024450449.1:c.1122A>G	XP_024306217.1:p.Pro374=
NM_001105247.2:c.1026A>G MANE Select	NP_001098717.1:p.Pro342=
NM_001288767.2:c.1311A>G	NP_001275696.1:p.Pro437=