Canonical Allele Identifier: CA8029590

Gene: ARMC5

Linked Data

• dbSNP Id: rs750797663
• ExAC: 16:31473871 C / T
• gnomAD v2: 16-31473871-C-T
• gnomAD v3: 16-31462550-C-T
• gnomAD v4: 16-31462550-C-T
• COSMIC: COSM703126 ; COSM1147683
• MyVariant Identifiers: chr16:g.31473871C>T (hg19) ; chr16:g.31462550C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31462550C>T , CM000678.2:g.31462550C>T	GRCh38
NC_000016.9:g.31473871C>T , CM000678.1:g.31473871C>T	GRCh37
NC_000016.8:g.31381372C>T	NCBI36
NG_034258.1:g.9278C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268314.9:c.1003C>T MANE Select	ENSP00000268314.4:p.Arg335Trp
ENST00000268314.8:c.1003C>T	ENSP00000268314.4:p.Arg335Trp
ENST00000408912.7:c.1288C>T	ENSP00000386125.3:p.Arg430Trp
ENST00000457010.6:c.1003C>T	ENSP00000399561.2:p.Arg335Trp
ENST00000538189.5:c.511C>T	ENSP00000443995.2:p.Arg171Trp
ENST00000563544.5:c.1003C>T	ENSP00000456877.1:p.Arg335Trp
ENST00000564900.1:c.213-222C>T
NM_001105247.1:c.1003C>T	NP_001098717.1:p.Arg335Trp
NM_001288767.1:c.1288C>T	NP_001275696.1:p.Arg430Trp
NM_001301820.1:c.1099C>T	NP_001288749.1:p.Arg367Trp
NM_024742.2:c.1003C>T	NP_079018.1:p.Arg335Trp
XM_006721091.1:c.1099C>T	XP_006721154.1:p.Arg367Trp
XM_006721091.3:c.1099C>T	XP_006721154.1:p.Arg367Trp
XM_024450448.1:c.1099C>T	XP_024306216.1:p.Arg367Trp
XM_024450449.1:c.1099C>T	XP_024306217.1:p.Arg367Trp
NM_001105247.2:c.1003C>T MANE Select	NP_001098717.1:p.Arg335Trp
NM_001288767.2:c.1288C>T	NP_001275696.1:p.Arg430Trp