Canonical Allele Identifier: CA306271857
Gene: ARMC6 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.19051760A>G
GRCh37 chr19:g.19162569A>G
Revel Score:
ENST00000392335 0.060
ENST00000535612 (MANE Select) 0.060
ENST00000537263 0.060
ENST00000541725 0.060
ENST00000269932 0.060
ENST00000546344 0.060
ENST00000540792 0.060
ENST00000541898 0.060
ENST00000535288 0.060
ENST00000379532 0.060
ENST00000392336 0.060
gnomAD v2:
19:19162569 A / G
gnomAD v3:
19:19051760 A / G
gnomAD v4:
chr19-19051760-A-G
Joint Max Group AF 0.00002074 (NFE)
Exomes Max Group AF 0.00002116 (NFE)
ClinVar Allele:
2211322
ClinVar RCV:
RCV004090251
ClinVar Variation:
2222716
dbSNP:
998668829
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.19051760A>G , CM000681.2:g.19051760A>G GRCh38
NC_000019.9:g.19162569A>G , CM000681.1:g.19162569A>G GRCh37
NC_000019.8:g.19023569A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000535612.6:c.418A>G MANE Select ENSP00000444156.1:p.Ile140Val
ENST00000269932.10:c.343A>G ENSP00000269932.6:p.Ile115Val
ENST00000392335.6:c.343A>G ENSP00000376147.2:p.Ile115Val
ENST00000392336.7:c.418A>G ENSP00000376148.3:p.Ile140Val
ENST00000535288.1:c.139A>G ENSP00000437580.1:p.Ile47Val
ENST00000535612.5:c.418A>G ENSP00000444156.1:p.Ile140Val
ENST00000537263.5:c.343A>G ENSP00000441948.1:p.Ile115Val
ENST00000539985.5:c.*430A>G ENSP00000441420.1:n.*430A>G
ENST00000540792.5:c.343A>G ENSP00000439269.1:p.Ile115Val
ENST00000541725.5:c.418A>G ENSP00000446209.1:p.Ile140Val
ENST00000541898.5:c.343A>G ENSP00000446037.1:p.Ile115Val
ENST00000545091.5:c.*128A>G ENSP00000444317.1:n.*128A>G
ENST00000546344.5:c.139A>G ENSP00000444341.1:p.Ile47Val
NM_001199196.1:c.418A>G NP_001186125.1:p.Ile140Val
NM_033415.3:c.343A>G NP_219483.1:p.Ile115Val
XM_005260157.2:c.343A>G XP_005260214.1:p.Ile115Val
XM_005260158.2:c.343A>G XP_005260215.1:p.Ile115Val
XM_011528439.1:c.418A>G XP_011526741.1:p.Ile140Val
XM_011528440.1:c.418A>G XP_011526742.1:p.Ile140Val
XM_005260157.3:c.343A>G XP_005260214.1:p.Ile115Val
XM_017027484.2:c.343A>G XP_016882973.1:p.Ile115Val
XM_017027485.2:c.343A>G XP_016882974.1:p.Ile115Val
XR_001753798.2:n.710A>G
NM_001199196.2:c.418A>G MANE Select NP_001186125.1:p.Ile140Val
NM_033415.4:c.343A>G NP_219483.1:p.Ile115Val
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