Canonical Allele Identifier: CA494933667

Gene: ARMC5

Linked Data

• gnomAD v4: 16-31462454-C-T
• MyVariant Identifiers: chr16:g.31473775C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31462454C>T , CM000678.2:g.31462454C>T	GRCh38
NC_000016.9:g.31473775C>T , CM000678.1:g.31473775C>T	GRCh37
NC_000016.8:g.31381276C>T	NCBI36
NG_034258.1:g.9182C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268314.9:c.907C>T MANE Select	ENSP00000268314.4:p.Leu303=
ENST00000268314.8:c.907C>T	ENSP00000268314.4:p.Leu303=
ENST00000408912.7:c.1192C>T	ENSP00000386125.3:p.Leu398=
ENST00000457010.6:c.907C>T	ENSP00000399561.2:p.Leu303=
ENST00000538189.5:c.415C>T	ENSP00000443995.2:p.Leu139=
ENST00000563544.5:c.907C>T	ENSP00000456877.1:p.Leu303=
ENST00000564900.1:c.212+259C>T
NM_001105247.1:c.907C>T	NP_001098717.1:p.Leu303=
NM_001288767.1:c.1192C>T	NP_001275696.1:p.Leu398=
NM_001301820.1:c.1003C>T	NP_001288749.1:p.Leu335=
NM_024742.2:c.907C>T	NP_079018.1:p.Leu303=
XM_006721091.1:c.1003C>T	XP_006721154.1:p.Leu335=
XM_006721091.3:c.1003C>T	XP_006721154.1:p.Leu335=
XM_024450448.1:c.1003C>T	XP_024306216.1:p.Leu335=
XM_024450449.1:c.1003C>T	XP_024306217.1:p.Leu335=
NM_001105247.2:c.907C>T MANE Select	NP_001098717.1:p.Leu303=
NM_001288767.2:c.1192C>T	NP_001275696.1:p.Leu398=