Canonical Allele Identifier: CA395733371

Gene: ARMC5

Linked Data

• dbSNP Id: rs1484658615
• gnomAD v2: 16-31473922-G-T
• gnomAD v4: 16-31462601-G-T
• MyVariant Identifiers: chr16:g.31473922G>T (hg19) ; chr16:g.31462601G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31462601G>T , CM000678.2:g.31462601G>T	GRCh38
NC_000016.9:g.31473922G>T , CM000678.1:g.31473922G>T	GRCh37
NC_000016.8:g.31381423G>T	NCBI36
NG_034258.1:g.9329G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268314.9:c.1054G>T MANE Select	ENSP00000268314.4:p.Val352Leu
ENST00000268314.8:c.1054G>T	ENSP00000268314.4:p.Val352Leu
ENST00000408912.7:c.1339G>T	ENSP00000386125.3:p.Val447Leu
ENST00000457010.6:c.1054G>T	ENSP00000399561.2:p.Val352Leu
ENST00000538189.5:c.562G>T	ENSP00000443995.2:p.Val188Leu
ENST00000563544.5:c.1054G>T	ENSP00000456877.1:p.Val352Leu
ENST00000564900.1:c.213-171G>T
NM_001105247.1:c.1054G>T	NP_001098717.1:p.Val352Leu
NM_001288767.1:c.1339G>T	NP_001275696.1:p.Val447Leu
NM_001301820.1:c.1150G>T	NP_001288749.1:p.Val384Leu
NM_024742.2:c.1054G>T	NP_079018.1:p.Val352Leu
XM_006721091.1:c.1150G>T	XP_006721154.1:p.Val384Leu
XM_006721091.3:c.1150G>T	XP_006721154.1:p.Val384Leu
XM_024450448.1:c.1150G>T	XP_024306216.1:p.Val384Leu
XM_024450449.1:c.1150G>T	XP_024306217.1:p.Val384Leu
NM_001105247.2:c.1054G>T MANE Select	NP_001098717.1:p.Val352Leu
NM_001288767.2:c.1339G>T	NP_001275696.1:p.Val447Leu