Canonical Allele Identifier: CA367124149

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30649228G>C (hg19) ; chr7:g.30609612G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609612G>C , CM000669.2:g.30609612G>C	GRCh38
NC_000007.13:g.30649228G>C , CM000669.1:g.30649228G>C	GRCh37
NC_000007.12:g.30615753G>C	NCBI36
NG_007942.1:g.20048G>C , LRG_243:g.20048G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.763G>C MANE Select	ENSP00000373918.3:p.Ala255Pro
ENST00000444666.6:c.763G>C	ENSP00000415447.2:p.Ala255Pro
ENST00000470392.2:n.853G>C
ENST00000478124.6:n.826G>C
ENST00000485784.2:n.842G>C
ENST00000674616.1:c.*477G>C	ENSP00000502408.1:n.*477G>C
ENST00000674643.1:c.763G>C	ENSP00000501636.1:p.Ala255Pro
ENST00000674734.1:n.1259G>C
ENST00000674737.1:c.*101G>C	ENSP00000502464.1:n.*101G>C
ENST00000674807.1:c.763G>C	ENSP00000502814.1:p.Ala255Pro
ENST00000674815.1:c.394G>C	ENSP00000502799.1:p.Ala132Pro
ENST00000674851.1:c.394G>C	ENSP00000502451.1:p.Ala132Pro
ENST00000674969.1:n.2636G>C
ENST00000675051.1:c.562G>C	ENSP00000502296.1:p.Ala188Pro
ENST00000675529.1:c.*633G>C	ENSP00000501655.1:n.*633G>C
ENST00000675587.1:n.779G>C
ENST00000675651.1:c.763G>C	ENSP00000502513.1:p.Ala255Pro
ENST00000675693.1:c.595G>C	ENSP00000502174.1:p.Ala199Pro
ENST00000675810.1:c.661G>C	ENSP00000502743.1:p.Ala221Pro
ENST00000675859.1:c.763G>C	ENSP00000502033.1:p.Ala255Pro
ENST00000675863.1:n.771G>C
ENST00000675886.1:n.6803G>C
ENST00000676088.1:c.*705G>C	ENSP00000501884.1:n.*705G>C
ENST00000676140.1:c.763G>C	ENSP00000502571.1:p.Ala255Pro
ENST00000676164.1:c.*214G>C	ENSP00000501986.1:n.*214G>C
ENST00000676210.1:c.*52G>C	ENSP00000502373.1:n.*52G>C
ENST00000676259.1:c.*195G>C	ENSP00000501980.1:n.*195G>C
ENST00000676403.1:c.763G>C	ENSP00000502681.1:p.Ala255Pro
ENST00000389266.7:c.763G>C	ENSP00000373918.3:p.Ala255Pro
ENST00000478124.5:n.801G>C
NM_001316772.1:c.601G>C	NP_001303701.1:p.Ala201Pro
NM_002047.2:c.763G>C , LRG_243t1:c.763G>C	NP_002038.2:p.Ala255Pro
NM_002047.3:c.763G>C	NP_002038.2:p.Ala255Pro
XM_006715686.1:c.394G>C	XP_006715749.1:p.Ala132Pro
XM_006715686.2:c.394G>C	XP_006715749.1:p.Ala132Pro
NM_002047.4:c.763G>C MANE Select	NP_002038.2:p.Ala255Pro