Canonical Allele Identifier: CA2774901738

Gene: GARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30626563C>A , CM000669.2:g.30626563C>A	GRCh38
NC_000007.13:g.30666179C>A , CM000669.1:g.30666179C>A	GRCh37
NC_000007.12:g.30632704C>A	NCBI36
NG_007942.1:g.36999C>A , LRG_243:g.36999C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1699+244C>A MANE Select	ENSP00000373918.3:n.1699+244C>A
ENST00000444666.6:c.1699+244C>A	ENSP00000415447.2:n.1699+244C>A
ENST00000470392.2:n.1789+244C>A
ENST00000485784.2:n.1778+244C>A
ENST00000674616.1:c.*1413+244C>A	ENSP00000502408.1:n.*1413+244C>A
ENST00000674643.1:c.*799+244C>A	ENSP00000501636.1:n.*799+244C>A
ENST00000674737.1:c.*1037+244C>A	ENSP00000502464.1:n.*1037+244C>A
ENST00000674807.1:c.1614-1997C>A	ENSP00000502814.1:n.1614-1997C>A
ENST00000674815.1:c.1330+244C>A	ENSP00000502799.1:n.1330+244C>A
ENST00000674851.1:c.1330+244C>A	ENSP00000502451.1:n.1330+244C>A
ENST00000674969.1:n.3572+244C>A
ENST00000675051.1:c.1498+244C>A	ENSP00000502296.1:n.1498+244C>A
ENST00000675529.1:c.*1569+244C>A	ENSP00000501655.1:n.*1569+244C>A
ENST00000675587.1:n.2531+244C>A
ENST00000675651.1:c.1699+244C>A	ENSP00000502513.1:n.1699+244C>A
ENST00000675693.1:c.1531+244C>A	ENSP00000502174.1:n.1531+244C>A
ENST00000675810.1:c.1597+244C>A	ENSP00000502743.1:n.1597+244C>A
ENST00000675859.1:c.1614-1997C>A	ENSP00000502033.1:n.1614-1997C>A
ENST00000675863.1:n.1707+244C>A
ENST00000675886.1:n.7739+244C>A
ENST00000676088.1:c.*1641+244C>A	ENSP00000501884.1:n.*1641+244C>A
ENST00000676140.1:c.*644+244C>A	ENSP00000502571.1:n.*644+244C>A
ENST00000676164.1:c.*1150+244C>A	ENSP00000501986.1:n.*1150+244C>A
ENST00000676210.1:c.*988+244C>A	ENSP00000502373.1:n.*988+244C>A
ENST00000676259.1:c.*1131+244C>A	ENSP00000501980.1:n.*1131+244C>A
ENST00000676403.1:c.1699+244C>A	ENSP00000502681.1:n.1699+244C>A
ENST00000389266.7:c.1699+244C>A	ENSP00000373918.3:n.1699+244C>A
ENST00000444666.5:c.220+244C>A	ENSP00000415447.1:n.220+244C>A
ENST00000470392.1:n.421+244C>A
NM_001316772.1:c.1537+244C>A	NP_001303701.1:n.1537+244C>A
NM_002047.2:c.1699+244C>A , LRG_243t1:c.1699+244C>A	NP_002038.2:n.1699+244C>A
NM_002047.3:c.1699+244C>A	NP_002038.2:n.1699+244C>A
XM_006715686.1:c.1330+244C>A	XP_006715749.1:n.1330+244C>A
XM_006715686.2:c.1330+244C>A	XP_006715749.1:n.1330+244C>A
NM_002047.4:c.1699+244C>A MANE Select	NP_002038.2:n.1699+244C>A