Canonical Allele Identifier: CA4205832

Gene: GARS1

Linked Data

• dbSNP Id: rs771426156
• ExAC: 7:30649279 C / T
• gnomAD v2: 7-30649279-C-T
• gnomAD v4: 7-30609663-C-T
• MyVariant Identifiers: chr7:g.30649279C>T (hg19) ; chr7:g.30609663C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609663C>T , CM000669.2:g.30609663C>T	GRCh38
NC_000007.13:g.30649279C>T , CM000669.1:g.30649279C>T	GRCh37
NC_000007.12:g.30615804C>T	NCBI36
NG_007942.1:g.20099C>T , LRG_243:g.20099C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.814C>T MANE Select	ENSP00000373918.3:p.Leu272=
ENST00000444666.6:c.814C>T	ENSP00000415447.2:p.Leu272=
ENST00000470392.2:n.904C>T
ENST00000478124.6:n.877C>T
ENST00000485784.2:n.893C>T
ENST00000674616.1:c.*528C>T	ENSP00000502408.1:n.*528C>T
ENST00000674643.1:c.814C>T	ENSP00000501636.1:p.Leu272=
ENST00000674734.1:n.1310C>T
ENST00000674737.1:c.*152C>T	ENSP00000502464.1:n.*152C>T
ENST00000674807.1:c.814C>T	ENSP00000502814.1:p.Leu272=
ENST00000674815.1:c.445C>T	ENSP00000502799.1:p.Leu149=
ENST00000674851.1:c.445C>T	ENSP00000502451.1:p.Leu149=
ENST00000674969.1:n.2687C>T
ENST00000675051.1:c.613C>T	ENSP00000502296.1:p.Leu205=
ENST00000675529.1:c.*684C>T	ENSP00000501655.1:n.*684C>T
ENST00000675587.1:n.830C>T
ENST00000675651.1:c.814C>T	ENSP00000502513.1:p.Leu272=
ENST00000675693.1:c.646C>T	ENSP00000502174.1:p.Leu216=
ENST00000675810.1:c.712C>T	ENSP00000502743.1:p.Leu238=
ENST00000675859.1:c.814C>T	ENSP00000502033.1:p.Leu272=
ENST00000675863.1:n.822C>T
ENST00000675886.1:n.6854C>T
ENST00000676088.1:c.*756C>T	ENSP00000501884.1:n.*756C>T
ENST00000676140.1:c.814C>T	ENSP00000502571.1:p.Leu272=
ENST00000676164.1:c.*265C>T	ENSP00000501986.1:n.*265C>T
ENST00000676210.1:c.*103C>T	ENSP00000502373.1:n.*103C>T
ENST00000676259.1:c.*246C>T	ENSP00000501980.1:n.*246C>T
ENST00000676403.1:c.814C>T	ENSP00000502681.1:p.Leu272=
ENST00000389266.7:c.814C>T	ENSP00000373918.3:p.Leu272=
ENST00000478124.5:n.852C>T
NM_001316772.1:c.652C>T	NP_001303701.1:p.Leu218=
NM_002047.2:c.814C>T , LRG_243t1:c.814C>T	NP_002038.2:p.Leu272=
NM_002047.3:c.814C>T	NP_002038.2:p.Leu272=
XM_006715686.1:c.445C>T	XP_006715749.1:p.Leu149=
XM_006715686.2:c.445C>T	XP_006715749.1:p.Leu149=
NM_002047.4:c.814C>T MANE Select	NP_002038.2:p.Leu272=