Canonical Allele Identifier: CA494934072

Gene: ARMC5

Linked Data

• MyVariant Identifiers: chr16:g.31473912G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31462591G>C , CM000678.2:g.31462591G>C	GRCh38
NC_000016.9:g.31473912G>C , CM000678.1:g.31473912G>C	GRCh37
NC_000016.8:g.31381413G>C	NCBI36
NG_034258.1:g.9319G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268314.9:c.1044G>C MANE Select	ENSP00000268314.4:p.Leu348=
ENST00000268314.8:c.1044G>C	ENSP00000268314.4:p.Leu348=
ENST00000408912.7:c.1329G>C	ENSP00000386125.3:p.Leu443=
ENST00000457010.6:c.1044G>C	ENSP00000399561.2:p.Leu348=
ENST00000538189.5:c.552G>C	ENSP00000443995.2:p.Leu184=
ENST00000563544.5:c.1044G>C	ENSP00000456877.1:p.Leu348=
ENST00000564900.1:c.213-181G>C
NM_001105247.1:c.1044G>C	NP_001098717.1:p.Leu348=
NM_001288767.1:c.1329G>C	NP_001275696.1:p.Leu443=
NM_001301820.1:c.1140G>C	NP_001288749.1:p.Leu380=
NM_024742.2:c.1044G>C	NP_079018.1:p.Leu348=
XM_006721091.1:c.1140G>C	XP_006721154.1:p.Leu380=
XM_006721091.3:c.1140G>C	XP_006721154.1:p.Leu380=
XM_024450448.1:c.1140G>C	XP_024306216.1:p.Leu380=
XM_024450449.1:c.1140G>C	XP_024306217.1:p.Leu380=
NM_001105247.2:c.1044G>C MANE Select	NP_001098717.1:p.Leu348=
NM_001288767.2:c.1329G>C	NP_001275696.1:p.Leu443=