Canonical Allele Identifier: CA454246933

Gene: GARS1

Linked Data

• gnomAD v4: 7-30612165-A-C
• MyVariant Identifiers: chr7:g.30651781A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612165A>C , CM000669.2:g.30612165A>C	GRCh38
NC_000007.13:g.30651781A>C , CM000669.1:g.30651781A>C	GRCh37
NC_000007.12:g.30618306A>C	NCBI36
NG_007942.1:g.22601A>C , LRG_243:g.22601A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.951A>C MANE Select	ENSP00000373918.3:p.Gly317=
ENST00000444666.6:c.951A>C	ENSP00000415447.2:p.Gly317=
ENST00000470392.2:n.1041A>C
ENST00000478124.6:n.1014A>C
ENST00000485784.2:n.1030A>C
ENST00000674616.1:c.*665A>C	ENSP00000502408.1:n.*665A>C
ENST00000674643.1:c.951A>C	ENSP00000501636.1:p.Gly317=
ENST00000674734.1:n.1447A>C
ENST00000674737.1:c.*289A>C	ENSP00000502464.1:n.*289A>C
ENST00000674807.1:c.951A>C	ENSP00000502814.1:p.Gly317=
ENST00000674815.1:c.582A>C	ENSP00000502799.1:p.Gly194=
ENST00000674851.1:c.582A>C	ENSP00000502451.1:p.Gly194=
ENST00000674969.1:n.2824A>C
ENST00000675051.1:c.750A>C	ENSP00000502296.1:p.Gly250=
ENST00000675529.1:c.*821A>C	ENSP00000501655.1:n.*821A>C
ENST00000675587.1:n.967A>C
ENST00000675651.1:c.951A>C	ENSP00000502513.1:p.Gly317=
ENST00000675693.1:c.783A>C	ENSP00000502174.1:p.Gly261=
ENST00000675810.1:c.849A>C	ENSP00000502743.1:p.Gly283=
ENST00000675859.1:c.951A>C	ENSP00000502033.1:p.Gly317=
ENST00000675863.1:n.959A>C
ENST00000675886.1:n.6991A>C
ENST00000676088.1:c.*893A>C	ENSP00000501884.1:n.*893A>C
ENST00000676140.1:c.951A>C	ENSP00000502571.1:p.Gly317=
ENST00000676164.1:c.*402A>C	ENSP00000501986.1:n.*402A>C
ENST00000676210.1:c.*240A>C	ENSP00000502373.1:n.*240A>C
ENST00000676259.1:c.*383A>C	ENSP00000501980.1:n.*383A>C
ENST00000676403.1:c.951A>C	ENSP00000502681.1:p.Gly317=
ENST00000389266.7:c.951A>C	ENSP00000373918.3:p.Gly317=
ENST00000478124.5:n.989A>C
NM_001316772.1:c.789A>C	NP_001303701.1:p.Gly263=
NM_002047.2:c.951A>C , LRG_243t1:c.951A>C	NP_002038.2:p.Gly317=
NM_002047.3:c.951A>C	NP_002038.2:p.Gly317=
XM_006715686.1:c.582A>C	XP_006715749.1:p.Gly194=
XM_006715686.2:c.582A>C	XP_006715749.1:p.Gly194=
NM_002047.4:c.951A>C MANE Select	NP_002038.2:p.Gly317=