Canonical Allele Identifier: CA367124068

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30649216C>A (hg19) ; chr7:g.30609600C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609600C>A , CM000669.2:g.30609600C>A	GRCh38
NC_000007.13:g.30649216C>A , CM000669.1:g.30649216C>A	GRCh37
NC_000007.12:g.30615741C>A	NCBI36
NG_007942.1:g.20036C>A , LRG_243:g.20036C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.751C>A MANE Select	ENSP00000373918.3:p.Gln251Lys
ENST00000444666.6:c.751C>A	ENSP00000415447.2:p.Gln251Lys
ENST00000470392.2:n.841C>A
ENST00000478124.6:n.814C>A
ENST00000485784.2:n.830C>A
ENST00000674616.1:c.*465C>A	ENSP00000502408.1:n.*465C>A
ENST00000674643.1:c.751C>A	ENSP00000501636.1:p.Gln251Lys
ENST00000674734.1:n.1247C>A
ENST00000674737.1:c.*89C>A	ENSP00000502464.1:n.*89C>A
ENST00000674807.1:c.751C>A	ENSP00000502814.1:p.Gln251Lys
ENST00000674815.1:c.382C>A	ENSP00000502799.1:p.Gln128Lys
ENST00000674851.1:c.382C>A	ENSP00000502451.1:p.Gln128Lys
ENST00000674969.1:n.2624C>A
ENST00000675051.1:c.550C>A	ENSP00000502296.1:p.Gln184Lys
ENST00000675529.1:c.*621C>A	ENSP00000501655.1:n.*621C>A
ENST00000675587.1:n.767C>A
ENST00000675651.1:c.751C>A	ENSP00000502513.1:p.Gln251Lys
ENST00000675693.1:c.583C>A	ENSP00000502174.1:p.Gln195Lys
ENST00000675810.1:c.649C>A	ENSP00000502743.1:p.Gln217Lys
ENST00000675859.1:c.751C>A	ENSP00000502033.1:p.Gln251Lys
ENST00000675863.1:n.759C>A
ENST00000675886.1:n.6791C>A
ENST00000676088.1:c.*693C>A	ENSP00000501884.1:n.*693C>A
ENST00000676140.1:c.751C>A	ENSP00000502571.1:p.Gln251Lys
ENST00000676164.1:c.*202C>A	ENSP00000501986.1:n.*202C>A
ENST00000676210.1:c.*40C>A	ENSP00000502373.1:n.*40C>A
ENST00000676259.1:c.*183C>A	ENSP00000501980.1:n.*183C>A
ENST00000676403.1:c.751C>A	ENSP00000502681.1:p.Gln251Lys
ENST00000389266.7:c.751C>A	ENSP00000373918.3:p.Gln251Lys
ENST00000478124.5:n.789C>A
NM_001316772.1:c.589C>A	NP_001303701.1:p.Gln197Lys
NM_002047.2:c.751C>A , LRG_243t1:c.751C>A	NP_002038.2:p.Gln251Lys
NM_002047.3:c.751C>A	NP_002038.2:p.Gln251Lys
XM_006715686.1:c.382C>A	XP_006715749.1:p.Gln128Lys
XM_006715686.2:c.382C>A	XP_006715749.1:p.Gln128Lys
NM_002047.4:c.751C>A MANE Select	NP_002038.2:p.Gln251Lys