Canonical Allele Identifier: CA837514377

Gene: GARS1

Linked Data

• dbSNP Id: rs1329911192
• gnomAD v3: 7-30626634-A-G
• gnomAD v4: 7-30626634-A-G
• MyVariant Identifiers: chr7:g.30666250A>G (hg19) ; chr7:g.30626634A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30626634A>G , CM000669.2:g.30626634A>G	GRCh38
NC_000007.13:g.30666250A>G , CM000669.1:g.30666250A>G	GRCh37
NC_000007.12:g.30632775A>G	NCBI36
NG_007942.1:g.37070A>G , LRG_243:g.37070A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1699+315A>G MANE Select	ENSP00000373918.3:n.1699+315A>G
ENST00000444666.6:c.1699+315A>G	ENSP00000415447.2:n.1699+315A>G
ENST00000470392.2:n.1789+315A>G
ENST00000485784.2:n.1778+315A>G
ENST00000674616.1:c.*1413+315A>G	ENSP00000502408.1:n.*1413+315A>G
ENST00000674643.1:c.*799+315A>G	ENSP00000501636.1:n.*799+315A>G
ENST00000674737.1:c.*1037+315A>G	ENSP00000502464.1:n.*1037+315A>G
ENST00000674807.1:c.1614-1926A>G	ENSP00000502814.1:n.1614-1926A>G
ENST00000674815.1:c.1330+315A>G	ENSP00000502799.1:n.1330+315A>G
ENST00000674851.1:c.1330+315A>G	ENSP00000502451.1:n.1330+315A>G
ENST00000674969.1:n.3572+315A>G
ENST00000675051.1:c.1498+315A>G	ENSP00000502296.1:n.1498+315A>G
ENST00000675529.1:c.*1569+315A>G	ENSP00000501655.1:n.*1569+315A>G
ENST00000675587.1:n.2531+315A>G
ENST00000675651.1:c.1699+315A>G	ENSP00000502513.1:n.1699+315A>G
ENST00000675693.1:c.1531+315A>G	ENSP00000502174.1:n.1531+315A>G
ENST00000675810.1:c.1597+315A>G	ENSP00000502743.1:n.1597+315A>G
ENST00000675859.1:c.1614-1926A>G	ENSP00000502033.1:n.1614-1926A>G
ENST00000675863.1:n.1707+315A>G
ENST00000675886.1:n.7739+315A>G
ENST00000676088.1:c.*1641+315A>G	ENSP00000501884.1:n.*1641+315A>G
ENST00000676140.1:c.*644+315A>G	ENSP00000502571.1:n.*644+315A>G
ENST00000676164.1:c.*1150+315A>G	ENSP00000501986.1:n.*1150+315A>G
ENST00000676210.1:c.*988+315A>G	ENSP00000502373.1:n.*988+315A>G
ENST00000676259.1:c.*1131+315A>G	ENSP00000501980.1:n.*1131+315A>G
ENST00000676403.1:c.1699+315A>G	ENSP00000502681.1:n.1699+315A>G
ENST00000389266.7:c.1699+315A>G	ENSP00000373918.3:n.1699+315A>G
ENST00000444666.5:c.220+315A>G	ENSP00000415447.1:n.220+315A>G
ENST00000470392.1:n.421+315A>G
NM_001316772.1:c.1537+315A>G	NP_001303701.1:n.1537+315A>G
NM_002047.2:c.1699+315A>G , LRG_243t1:c.1699+315A>G	NP_002038.2:n.1699+315A>G
NM_002047.3:c.1699+315A>G	NP_002038.2:n.1699+315A>G
XM_006715686.1:c.1330+315A>G	XP_006715749.1:n.1330+315A>G
XM_006715686.2:c.1330+315A>G	XP_006715749.1:n.1330+315A>G
NM_002047.4:c.1699+315A>G MANE Select	NP_002038.2:n.1699+315A>G