Canonical Allele Identifier: CA494933948

Gene: ARMC5

Linked Data

• gnomAD v4: 16-31462540-C-T
• MyVariant Identifiers: chr16:g.31473861C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31462540C>T , CM000678.2:g.31462540C>T	GRCh38
NC_000016.9:g.31473861C>T , CM000678.1:g.31473861C>T	GRCh37
NC_000016.8:g.31381362C>T	NCBI36
NG_034258.1:g.9268C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268314.9:c.993C>T MANE Select	ENSP00000268314.4:p.Leu331=
ENST00000268314.8:c.993C>T	ENSP00000268314.4:p.Leu331=
ENST00000408912.7:c.1278C>T	ENSP00000386125.3:p.Leu426=
ENST00000457010.6:c.993C>T	ENSP00000399561.2:p.Leu331=
ENST00000538189.5:c.501C>T	ENSP00000443995.2:p.Leu167=
ENST00000563544.5:c.993C>T	ENSP00000456877.1:p.Leu331=
ENST00000564900.1:c.213-232C>T
NM_001105247.1:c.993C>T	NP_001098717.1:p.Leu331=
NM_001288767.1:c.1278C>T	NP_001275696.1:p.Leu426=
NM_001301820.1:c.1089C>T	NP_001288749.1:p.Leu363=
NM_024742.2:c.993C>T	NP_079018.1:p.Leu331=
XM_006721091.1:c.1089C>T	XP_006721154.1:p.Leu363=
XM_006721091.3:c.1089C>T	XP_006721154.1:p.Leu363=
XM_024450448.1:c.1089C>T	XP_024306216.1:p.Leu363=
XM_024450449.1:c.1089C>T	XP_024306217.1:p.Leu363=
NM_001105247.2:c.993C>T MANE Select	NP_001098717.1:p.Leu331=
NM_001288767.2:c.1278C>T	NP_001275696.1:p.Leu426=