Canonical Allele Identifier: CA8029583

Gene: ARMC5

Linked Data

• ClinVar Variation Id: 746234
• ClinVar RCV Id: RCV000922830 ; RCV003933117
• dbSNP Id: rs35461188
• ExAC: 16:31473836 G / C
• gnomAD v2: 16-31473836-G-C
• gnomAD v3: 16-31462515-G-C
• gnomAD v4: 16-31462515-G-C
• MyVariant Identifiers: chr16:g.31473836G>C (hg19) ; chr16:g.31462515G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31462515G>C , CM000678.2:g.31462515G>C	GRCh38
NC_000016.9:g.31473836G>C , CM000678.1:g.31473836G>C	GRCh37
NC_000016.8:g.31381337G>C	NCBI36
NG_034258.1:g.9243G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268314.9:c.968G>C MANE Select	ENSP00000268314.4:p.Gly323Ala
ENST00000268314.8:c.968G>C	ENSP00000268314.4:p.Gly323Ala
ENST00000408912.7:c.1253G>C	ENSP00000386125.3:p.Gly418Ala
ENST00000457010.6:c.968G>C	ENSP00000399561.2:p.Gly323Ala
ENST00000538189.5:c.476G>C	ENSP00000443995.2:p.Gly159Ala
ENST00000563544.5:c.968G>C	ENSP00000456877.1:p.Gly323Ala
ENST00000564900.1:c.213-257G>C
NM_001105247.1:c.968G>C	NP_001098717.1:p.Gly323Ala
NM_001288767.1:c.1253G>C	NP_001275696.1:p.Gly418Ala
NM_001301820.1:c.1064G>C	NP_001288749.1:p.Gly355Ala
NM_024742.2:c.968G>C	NP_079018.1:p.Gly323Ala
XM_006721091.1:c.1064G>C	XP_006721154.1:p.Gly355Ala
XM_006721091.3:c.1064G>C	XP_006721154.1:p.Gly355Ala
XM_024450448.1:c.1064G>C	XP_024306216.1:p.Gly355Ala
XM_024450449.1:c.1064G>C	XP_024306217.1:p.Gly355Ala
NM_001105247.2:c.968G>C MANE Select	NP_001098717.1:p.Gly323Ala
NM_001288767.2:c.1253G>C	NP_001275696.1:p.Gly418Ala