Canonical Allele Identifier: CA4206080

Gene: GARS1

Linked Data

• ClinVar Variation Id: 360016
• ClinVar RCV Id: RCV000273382 ; RCV000331028 ; RCV000356395 ; RCV000417980 ; RCV001172977 ; RCV002229910
• dbSNP Id: rs367739730
• ExAC: 7:30668299 T / C
• gnomAD v2: 7-30668299-T-C
• gnomAD v3: 7-30628683-T-C
• gnomAD v4: 7-30628683-T-C
• MyVariant Identifiers: chr7:g.30668299T>C (hg19) ; chr7:g.30628683T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30628683T>C , CM000669.2:g.30628683T>C	GRCh38
NC_000007.13:g.30668299T>C , CM000669.1:g.30668299T>C	GRCh37
NC_000007.12:g.30634824T>C	NCBI36
NG_007942.1:g.39119T>C , LRG_243:g.39119T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1809+14T>C MANE Select	ENSP00000373918.3:n.1809+14T>C
ENST00000444666.6:c.*230+14T>C	ENSP00000415447.2:n.*230+14T>C
ENST00000465748.2:n.1290+14T>C
ENST00000470392.2:n.1913T>C
ENST00000485784.2:n.1902T>C
ENST00000496643.2:n.140T>C
ENST00000674616.1:c.*1523+14T>C	ENSP00000502408.1:n.*1523+14T>C
ENST00000674643.1:c.*909+14T>C	ENSP00000501636.1:n.*909+14T>C
ENST00000674737.1:c.*1147+14T>C	ENSP00000502464.1:n.*1147+14T>C
ENST00000674807.1:c.*82+14T>C	ENSP00000502814.1:n.*82+14T>C
ENST00000674815.1:c.1440+14T>C	ENSP00000502799.1:n.1440+14T>C
ENST00000674851.1:c.1440+14T>C	ENSP00000502451.1:n.1440+14T>C
ENST00000674969.1:n.3682+14T>C
ENST00000675051.1:c.1608+14T>C	ENSP00000502296.1:n.1608+14T>C
ENST00000675529.1:c.*1679+14T>C	ENSP00000501655.1:n.*1679+14T>C
ENST00000675587.1:n.2641+14T>C
ENST00000675651.1:c.1809+14T>C	ENSP00000502513.1:n.1809+14T>C
ENST00000675693.1:c.1641+14T>C	ENSP00000502174.1:n.1641+14T>C
ENST00000675810.1:c.1707+14T>C	ENSP00000502743.1:n.1707+14T>C
ENST00000675859.1:c.*82+14T>C	ENSP00000502033.1:n.*82+14T>C
ENST00000675863.1:n.1817+14T>C
ENST00000675886.1:n.7849+14T>C
ENST00000676088.1:c.*1751+14T>C	ENSP00000501884.1:n.*1751+14T>C
ENST00000676140.1:c.*754+14T>C	ENSP00000502571.1:n.*754+14T>C
ENST00000676164.1:c.*1260+14T>C	ENSP00000501986.1:n.*1260+14T>C
ENST00000676210.1:c.*1098+14T>C	ENSP00000502373.1:n.*1098+14T>C
ENST00000676259.1:c.*1241+14T>C	ENSP00000501980.1:n.*1241+14T>C
ENST00000676403.1:c.1809+14T>C	ENSP00000502681.1:n.1809+14T>C
ENST00000389266.7:c.1809+14T>C	ENSP00000373918.3:n.1809+14T>C
ENST00000444666.5:c.464+14T>C	ENSP00000415447.1:n.464+14T>C
ENST00000465748.1:n.180+14T>C
NM_001316772.1:c.1647+14T>C	NP_001303701.1:n.1647+14T>C
NM_002047.2:c.1809+14T>C , LRG_243t1:c.1809+14T>C	NP_002038.2:n.1809+14T>C
NM_002047.3:c.1809+14T>C	NP_002038.2:n.1809+14T>C
XM_006715686.1:c.1440+14T>C	XP_006715749.1:n.1440+14T>C
XM_006715686.2:c.1440+14T>C	XP_006715749.1:n.1440+14T>C
NM_002047.4:c.1809+14T>C MANE Select	NP_002038.2:n.1809+14T>C