Canonical Allele Identifier: CA4206165

Gene: GARS1

Linked Data

• ClinVar Variation Id: 258536
• ClinVar RCV Id: RCV000241978 ; RCV000301521 ; RCV000367864 ; RCV000393359 ; RCV000676711 ; RCV001095202 ; RCV001172985 ; RCV001701814
• dbSNP Id: rs2240401
• ExAC: 7:30673345 C / T
• gnomAD v2: 7-30673345-C-T
• gnomAD v3: 7-30633729-C-T
• gnomAD v4: 7-30633729-C-T
• MyVariant Identifiers: chr7:g.30673345C>T (hg19) ; chr7:g.30633729C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30633729C>T , CM000669.2:g.30633729C>T	GRCh38
NC_000007.13:g.30673345C>T , CM000669.1:g.30673345C>T	GRCh37
NC_000007.12:g.30639870C>T	NCBI36
NG_007942.1:g.44165C>T , LRG_243:g.44165C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.2095-6C>T MANE Select	ENSP00000373918.3:n.2095-6C>T
ENST00000444666.6:c.*516-6C>T	ENSP00000415447.2:n.*516-6C>T
ENST00000465748.2:n.1576-6C>T
ENST00000470392.2:n.5668-6C>T
ENST00000485784.2:n.4952-6C>T
ENST00000496643.2:n.3895-6C>T
ENST00000674616.1:c.*1809-6C>T	ENSP00000502408.1:n.*1809-6C>T
ENST00000674643.1:c.*1900-6C>T	ENSP00000501636.1:n.*1900-6C>T
ENST00000674737.1:c.*1433-6C>T	ENSP00000502464.1:n.*1433-6C>T
ENST00000674807.1:c.*368-6C>T	ENSP00000502814.1:n.*368-6C>T
ENST00000674815.1:c.1726-6C>T	ENSP00000502799.1:n.1726-6C>T
ENST00000674851.1:c.1726-6C>T	ENSP00000502451.1:n.1726-6C>T
ENST00000674969.1:n.3968-6C>T
ENST00000675051.1:c.1894-6C>T	ENSP00000502296.1:n.1894-6C>T
ENST00000675529.1:c.*1965-6C>T	ENSP00000501655.1:n.*1965-6C>T
ENST00000675587.1:n.2927-6C>T
ENST00000675651.1:c.2113-6C>T	ENSP00000502513.1:n.2113-6C>T
ENST00000675693.1:c.1927-6C>T	ENSP00000502174.1:n.1927-6C>T
ENST00000675810.1:c.1993-6C>T	ENSP00000502743.1:n.1993-6C>T
ENST00000675859.1:c.*274-6C>T	ENSP00000502033.1:n.*274-6C>T
ENST00000675863.1:n.2808-6C>T
ENST00000675886.1:n.8135-6C>T
ENST00000676088.1:c.*2037-6C>T	ENSP00000501884.1:n.*2037-6C>T
ENST00000676140.1:c.*1040-6C>T	ENSP00000502571.1:n.*1040-6C>T
ENST00000676164.1:c.*1546-6C>T	ENSP00000501986.1:n.*1546-6C>T
ENST00000676210.1:c.*1384-6C>T	ENSP00000502373.1:n.*1384-6C>T
ENST00000676259.1:c.*1527-6C>T	ENSP00000501980.1:n.*1527-6C>T
ENST00000676403.1:c.*180-6C>T	ENSP00000502681.1:n.*180-6C>T
ENST00000389266.7:c.2095-6C>T	ENSP00000373918.3:n.2095-6C>T
ENST00000485784.1:n.585-6C>T
ENST00000496643.1:n.474-6C>T
NM_001316772.1:c.1933-6C>T	NP_001303701.1:n.1933-6C>T
NM_002047.2:c.2095-6C>T , LRG_243t1:c.2095-6C>T	NP_002038.2:n.2095-6C>T
NM_002047.3:c.2095-6C>T	NP_002038.2:n.2095-6C>T
XM_006715686.1:c.1726-6C>T	XP_006715749.1:n.1726-6C>T
XM_006715686.2:c.1726-6C>T	XP_006715749.1:n.1726-6C>T
NM_002047.4:c.2095-6C>T MANE Select	NP_002038.2:n.2095-6C>T