Canonical Allele Identifier: CA350958075
Community Standard Title: NM_001352754.2(ARMC9):c.2160G>A (p.Trp720Ter)
Gene: ARMC9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.231360782G>A , CM000664.2:g.231360782G>A GRCh38
NC_000002.11:g.232225494G>A , CM000664.1:g.232225494G>A GRCh37
NC_000002.10:g.231933738G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001352754.2:c.2160G>A MANE Select NP_001339683.2:p.Trp720Ter
ENST00000611582.5:c.2160G>A MANE Select ENSP00000484804.1:p.Trp720Ter
NM_001271466.2:c.2160G>A NP_001258395.1:p.Trp720Ter
NM_001271466.3:c.2160G>A NP_001258395.1:p.Trp720Ter
NM_001271466.4:c.2160G>A NP_001258395.2:p.Trp720Ter
NM_001352754.1:c.2160G>A NP_001339683.1:p.Trp720Ter
ENST00000611582.4:c.2160G>A ENSP00000484804.1:p.Trp720Ter
ENST00000614261.4:c.2160G>A ENSP00000484241.1:p.Trp720Ter
ENST00000684075.1:n.73G>A
XM_011511905.1:c.2044G>A XP_011510207.1:p.Ala682Thr
XM_011511906.1:c.2041G>A XP_011510208.1:p.Ala681Thr
XM_011511907.1:c.1945G>A XP_011510209.1:p.Ala649Thr
XM_011511908.1:c.2160G>A XP_011510210.1:p.Trp720Ter
XM_011511908.2:c.2160G>A XP_011510210.1:p.Trp720Ter
XM_011511909.1:c.2157G>A XP_011510211.1:p.Trp719Ter
XM_011511909.2:c.2157G>A XP_011510211.1:p.Trp719Ter
XM_011511910.1:c.2160G>A XP_011510212.1:p.Trp720Ter
XM_011511911.1:c.2160G>A XP_011510213.1:p.Trp720Ter
XM_011511912.1:c.2044G>A XP_011510214.1:p.Ala682Thr
XM_011511913.1:c.2044G>A XP_011510215.1:p.Ala682Thr
XM_011511913.2:c.2044G>A XP_011510215.1:p.Ala682Thr
XM_011511919.1:c.970G>A XP_011510221.1:p.Ala324Thr
XM_011511919.2:c.970G>A XP_011510221.1:p.Ala324Thr
XM_017005021.1:c.2160G>A XP_016860510.1:p.Trp720Ter
XM_017005022.1:c.2160G>A XP_016860511.1:p.Trp720Ter
XM_017005024.1:c.2061G>A XP_016860513.1:p.Trp687Ter
XM_017005025.1:c.2044G>A XP_016860514.1:p.Ala682Thr