Canonical Allele Identifier: CA4206124
Community Standard Title: NM_002047.4(GARS1):c.1921C>T (p.His641Tyr)
Gene: GARS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30632264C>T , CM000669.2:g.30632264C>T GRCh38
NC_000007.13:g.30671880C>T , CM000669.1:g.30671880C>T GRCh37
NC_000007.12:g.30638405C>T NCBI36
NG_007942.1:g.42700C>T , LRG_243:g.42700C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002047.4:c.1921C>T MANE Select NP_002038.2:p.His641Tyr
ENST00000389266.8:c.1921C>T MANE Select ENSP00000373918.3:p.His641Tyr
NM_001316772.1:c.1759C>T NP_001303701.1:p.His587Tyr
NM_002047.2:c.1921C>T , LRG_243t1:c.1921C>T NP_002038.2:p.His641Tyr
NM_002047.3:c.1921C>T NP_002038.2:p.His641Tyr
ENST00000389266.7:c.1921C>T ENSP00000373918.3:p.His641Tyr
ENST00000444666.5:c.576C>T ENSP00000415447.1:n.576C>T
ENST00000444666.6:c.*342C>T ENSP00000415447.2:n.*342C>T
ENST00000465748.1:n.292C>T
ENST00000465748.2:n.1402C>T
ENST00000470392.2:n.5494C>T
ENST00000485784.1:n.411C>T
ENST00000485784.2:n.4778C>T
ENST00000496643.1:n.300C>T
ENST00000496643.2:n.3721C>T
ENST00000674616.1:c.*1635C>T ENSP00000502408.1:n.*1635C>T
ENST00000674643.1:c.*1726C>T ENSP00000501636.1:n.*1726C>T
ENST00000674737.1:c.*1259C>T ENSP00000502464.1:n.*1259C>T
ENST00000674807.1:c.*194C>T ENSP00000502814.1:n.*194C>T
ENST00000674815.1:c.1552C>T ENSP00000502799.1:p.His518Tyr
ENST00000674851.1:c.1552C>T ENSP00000502451.1:p.His518Tyr
ENST00000674969.1:n.3794C>T
ENST00000675051.1:c.1720C>T ENSP00000502296.1:p.His574Tyr
ENST00000675529.1:c.*1791C>T ENSP00000501655.1:n.*1791C>T
ENST00000675587.1:n.2753C>T
ENST00000675651.1:c.1939C>T ENSP00000502513.1:p.His647Tyr
ENST00000675693.1:c.1753C>T ENSP00000502174.1:p.His585Tyr
ENST00000675810.1:c.1819C>T ENSP00000502743.1:p.His607Tyr
ENST00000675859.1:c.*100C>T ENSP00000502033.1:n.*100C>T
ENST00000675863.1:n.2634C>T
ENST00000675886.1:n.7961C>T
ENST00000676088.1:c.*1863C>T ENSP00000501884.1:n.*1863C>T
ENST00000676140.1:c.*866C>T ENSP00000502571.1:n.*866C>T
ENST00000676164.1:c.*1372C>T ENSP00000501986.1:n.*1372C>T
ENST00000676210.1:c.*1210C>T ENSP00000502373.1:n.*1210C>T
ENST00000676259.1:c.*1353C>T ENSP00000501980.1:n.*1353C>T
ENST00000676403.1:c.*6C>T ENSP00000502681.1:n.*6C>T
XM_006715686.1:c.1552C>T XP_006715749.1:p.His518Tyr
XM_006715686.2:c.1552C>T XP_006715749.1:p.His518Tyr