Canonical Allele Identifier: CA395732987

Gene: ARMC5

Linked Data

• gnomAD v4: 16-31462475-G-T
• MyVariant Identifiers: chr16:g.31473796G>T (hg19) ; chr16:g.31462475G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31462475G>T , CM000678.2:g.31462475G>T	GRCh38
NC_000016.9:g.31473796G>T , CM000678.1:g.31473796G>T	GRCh37
NC_000016.8:g.31381297G>T	NCBI36
NG_034258.1:g.9203G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268314.9:c.928G>T MANE Select	ENSP00000268314.4:p.Ala310Ser
ENST00000268314.8:c.928G>T	ENSP00000268314.4:p.Ala310Ser
ENST00000408912.7:c.1213G>T	ENSP00000386125.3:p.Ala405Ser
ENST00000457010.6:c.928G>T	ENSP00000399561.2:p.Ala310Ser
ENST00000538189.5:c.436G>T	ENSP00000443995.2:p.Ala146Ser
ENST00000563544.5:c.928G>T	ENSP00000456877.1:p.Ala310Ser
ENST00000564900.1:c.212+280G>T
NM_001105247.1:c.928G>T	NP_001098717.1:p.Ala310Ser
NM_001288767.1:c.1213G>T	NP_001275696.1:p.Ala405Ser
NM_001301820.1:c.1024G>T	NP_001288749.1:p.Ala342Ser
NM_024742.2:c.928G>T	NP_079018.1:p.Ala310Ser
XM_006721091.1:c.1024G>T	XP_006721154.1:p.Ala342Ser
XM_006721091.3:c.1024G>T	XP_006721154.1:p.Ala342Ser
XM_024450448.1:c.1024G>T	XP_024306216.1:p.Ala342Ser
XM_024450449.1:c.1024G>T	XP_024306217.1:p.Ala342Ser
NM_001105247.2:c.928G>T MANE Select	NP_001098717.1:p.Ala310Ser
NM_001288767.2:c.1213G>T	NP_001275696.1:p.Ala405Ser