Canonical Allele Identifier: CA395732876

Gene: ARMC5

Linked Data

• dbSNP Id: rs2082312558
• gnomAD v4: 16-31462458-T-C
• MyVariant Identifiers: chr16:g.31473779T>C (hg19) ; chr16:g.31462458T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31462458T>C , CM000678.2:g.31462458T>C	GRCh38
NC_000016.9:g.31473779T>C , CM000678.1:g.31473779T>C	GRCh37
NC_000016.8:g.31381280T>C	NCBI36
NG_034258.1:g.9186T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268314.9:c.911T>C MANE Select	ENSP00000268314.4:p.Ile304Thr
ENST00000268314.8:c.911T>C	ENSP00000268314.4:p.Ile304Thr
ENST00000408912.7:c.1196T>C	ENSP00000386125.3:p.Ile399Thr
ENST00000457010.6:c.911T>C	ENSP00000399561.2:p.Ile304Thr
ENST00000538189.5:c.419T>C	ENSP00000443995.2:p.Ile140Thr
ENST00000563544.5:c.911T>C	ENSP00000456877.1:p.Ile304Thr
ENST00000564900.1:c.212+263T>C
NM_001105247.1:c.911T>C	NP_001098717.1:p.Ile304Thr
NM_001288767.1:c.1196T>C	NP_001275696.1:p.Ile399Thr
NM_001301820.1:c.1007T>C	NP_001288749.1:p.Ile336Thr
NM_024742.2:c.911T>C	NP_079018.1:p.Ile304Thr
XM_006721091.1:c.1007T>C	XP_006721154.1:p.Ile336Thr
XM_006721091.3:c.1007T>C	XP_006721154.1:p.Ile336Thr
XM_024450448.1:c.1007T>C	XP_024306216.1:p.Ile336Thr
XM_024450449.1:c.1007T>C	XP_024306217.1:p.Ile336Thr
NM_001105247.2:c.911T>C MANE Select	NP_001098717.1:p.Ile304Thr
NM_001288767.2:c.1196T>C	NP_001275696.1:p.Ile399Thr