Canonical Allele Identifier: CA454254584

Gene: GARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30622382T>C , CM000669.2:g.30622382T>C	GRCh38
NC_000007.13:g.30661998T>C , CM000669.1:g.30661998T>C	GRCh37
NC_000007.12:g.30628523T>C	NCBI36
NG_007942.1:g.32818T>C , LRG_243:g.32818T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002047.4:c.1533T>C MANE Select	NP_002038.2:p.Asp511=
ENST00000389266.8:c.1533T>C MANE Select	ENSP00000373918.3:p.Asp511=
NM_001316772.1:c.1371T>C	NP_001303701.1:p.Asp457=
NM_002047.2:c.1533T>C , LRG_243t1:c.1533T>C	NP_002038.2:p.Asp511=
NM_002047.3:c.1533T>C	NP_002038.2:p.Asp511=
ENST00000389266.7:c.1533T>C	ENSP00000373918.3:p.Asp511=
ENST00000444666.5:c.54T>C	ENSP00000415447.1:p.Asp18=
ENST00000444666.6:c.1533T>C	ENSP00000415447.2:p.Asp511=
ENST00000470392.1:n.255T>C
ENST00000470392.2:n.1623T>C
ENST00000478124.5:n.1571T>C
ENST00000478124.6:n.1596T>C
ENST00000485784.2:n.1612T>C
ENST00000674616.1:c.*1247T>C	ENSP00000502408.1:n.*1247T>C
ENST00000674643.1:c.*633T>C	ENSP00000501636.1:n.*633T>C
ENST00000674734.1:n.2845T>C
ENST00000674737.1:c.*871T>C	ENSP00000502464.1:n.*871T>C
ENST00000674807.1:c.1533T>C	ENSP00000502814.1:p.Asp511=
ENST00000674815.1:c.1164T>C	ENSP00000502799.1:p.Asp388=
ENST00000674851.1:c.1164T>C	ENSP00000502451.1:p.Asp388=
ENST00000674969.1:n.3406T>C
ENST00000675051.1:c.1332T>C	ENSP00000502296.1:p.Asp444=
ENST00000675529.1:c.*1403T>C	ENSP00000501655.1:n.*1403T>C
ENST00000675587.1:n.2365T>C
ENST00000675651.1:c.1533T>C	ENSP00000502513.1:p.Asp511=
ENST00000675693.1:c.1365T>C	ENSP00000502174.1:p.Asp455=
ENST00000675810.1:c.1431T>C	ENSP00000502743.1:p.Asp477=
ENST00000675859.1:c.1533T>C	ENSP00000502033.1:p.Asp511=
ENST00000675863.1:n.1541T>C
ENST00000675886.1:n.7573T>C
ENST00000676088.1:c.*1475T>C	ENSP00000501884.1:n.*1475T>C
ENST00000676140.1:c.*478T>C	ENSP00000502571.1:n.*478T>C
ENST00000676164.1:c.*984T>C	ENSP00000501986.1:n.*984T>C
ENST00000676210.1:c.*822T>C	ENSP00000502373.1:n.*822T>C
ENST00000676259.1:c.*965T>C	ENSP00000501980.1:n.*965T>C
ENST00000676403.1:c.1533T>C	ENSP00000502681.1:p.Asp511=
XM_006715686.1:c.1164T>C	XP_006715749.1:p.Asp388=
XM_006715686.2:c.1164T>C	XP_006715749.1:p.Asp388=