Canonical Allele Identifier: CA395733489

Gene: ARMC5

Linked Data

• dbSNP Id: rs1366166804
• gnomAD v3: 16-31462660-G-C
• gnomAD v4: 16-31462660-G-C
• MyVariant Identifiers: chr16:g.31473981G>C (hg19) ; chr16:g.31462660G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31462660G>C , CM000678.2:g.31462660G>C	GRCh38
NC_000016.9:g.31473981G>C , CM000678.1:g.31473981G>C	GRCh37
NC_000016.8:g.31381482G>C	NCBI36
NG_034258.1:g.9388G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268314.9:c.1113G>C MANE Select	ENSP00000268314.4:p.Leu371Phe
ENST00000268314.8:c.1113G>C	ENSP00000268314.4:p.Leu371Phe
ENST00000408912.7:c.1398G>C	ENSP00000386125.3:p.Leu466Phe
ENST00000457010.6:c.1113G>C	ENSP00000399561.2:p.Leu371Phe
ENST00000538189.5:c.621G>C	ENSP00000443995.2:p.Leu207Phe
ENST00000563544.5:c.1113G>C	ENSP00000456877.1:p.Leu371Phe
ENST00000564900.1:c.213-112G>C
NM_001105247.1:c.1113G>C	NP_001098717.1:p.Leu371Phe
NM_001288767.1:c.1398G>C	NP_001275696.1:p.Leu466Phe
NM_001301820.1:c.1209G>C	NP_001288749.1:p.Leu403Phe
NM_024742.2:c.1113G>C	NP_079018.1:p.Leu371Phe
XM_006721091.1:c.1209G>C	XP_006721154.1:p.Leu403Phe
XM_006721091.3:c.1209G>C	XP_006721154.1:p.Leu403Phe
XM_024450448.1:c.1209G>C	XP_024306216.1:p.Leu403Phe
XM_024450449.1:c.1209G>C	XP_024306217.1:p.Leu403Phe
NM_001105247.2:c.1113G>C MANE Select	NP_001098717.1:p.Leu371Phe
NM_001288767.2:c.1398G>C	NP_001275696.1:p.Leu466Phe