Canonical Allele Identifier: CA4205829

Gene: GARS1

Linked Data

• dbSNP Id: rs779588993
• ExAC: 7:30649257 A / C
• gnomAD v2: 7-30649257-A-C
• gnomAD v4: 7-30609641-A-C
• MyVariant Identifiers: chr7:g.30649257A>C (hg19) ; chr7:g.30609641A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609641A>C , CM000669.2:g.30609641A>C	GRCh38
NC_000007.13:g.30649257A>C , CM000669.1:g.30649257A>C	GRCh37
NC_000007.12:g.30615782A>C	NCBI36
NG_007942.1:g.20077A>C , LRG_243:g.20077A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.792A>C MANE Select	ENSP00000373918.3:p.Lys264Asn
ENST00000444666.6:c.792A>C	ENSP00000415447.2:p.Lys264Asn
ENST00000470392.2:n.882A>C
ENST00000478124.6:n.855A>C
ENST00000485784.2:n.871A>C
ENST00000674616.1:c.*506A>C	ENSP00000502408.1:n.*506A>C
ENST00000674643.1:c.792A>C	ENSP00000501636.1:p.Lys264Asn
ENST00000674734.1:n.1288A>C
ENST00000674737.1:c.*130A>C	ENSP00000502464.1:n.*130A>C
ENST00000674807.1:c.792A>C	ENSP00000502814.1:p.Lys264Asn
ENST00000674815.1:c.423A>C	ENSP00000502799.1:p.Lys141Asn
ENST00000674851.1:c.423A>C	ENSP00000502451.1:p.Lys141Asn
ENST00000674969.1:n.2665A>C
ENST00000675051.1:c.591A>C	ENSP00000502296.1:p.Lys197Asn
ENST00000675529.1:c.*662A>C	ENSP00000501655.1:n.*662A>C
ENST00000675587.1:n.808A>C
ENST00000675651.1:c.792A>C	ENSP00000502513.1:p.Lys264Asn
ENST00000675693.1:c.624A>C	ENSP00000502174.1:p.Lys208Asn
ENST00000675810.1:c.690A>C	ENSP00000502743.1:p.Lys230Asn
ENST00000675859.1:c.792A>C	ENSP00000502033.1:p.Lys264Asn
ENST00000675863.1:n.800A>C
ENST00000675886.1:n.6832A>C
ENST00000676088.1:c.*734A>C	ENSP00000501884.1:n.*734A>C
ENST00000676140.1:c.792A>C	ENSP00000502571.1:p.Lys264Asn
ENST00000676164.1:c.*243A>C	ENSP00000501986.1:n.*243A>C
ENST00000676210.1:c.*81A>C	ENSP00000502373.1:n.*81A>C
ENST00000676259.1:c.*224A>C	ENSP00000501980.1:n.*224A>C
ENST00000676403.1:c.792A>C	ENSP00000502681.1:p.Lys264Asn
ENST00000389266.7:c.792A>C	ENSP00000373918.3:p.Lys264Asn
ENST00000478124.5:n.830A>C
NM_001316772.1:c.630A>C	NP_001303701.1:p.Lys210Asn
NM_002047.2:c.792A>C , LRG_243t1:c.792A>C	NP_002038.2:p.Lys264Asn
NM_002047.3:c.792A>C	NP_002038.2:p.Lys264Asn
XM_006715686.1:c.423A>C	XP_006715749.1:p.Lys141Asn
XM_006715686.2:c.423A>C	XP_006715749.1:p.Lys141Asn
NM_002047.4:c.792A>C MANE Select	NP_002038.2:p.Lys264Asn