Canonical Allele Identifier: CA156058559

Gene: GARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30628575C>T , CM000669.2:g.30628575C>T	GRCh38
NC_000007.13:g.30668191C>T , CM000669.1:g.30668191C>T	GRCh37
NC_000007.12:g.30634716C>T	NCBI36
NG_007942.1:g.39011C>T , LRG_243:g.39011C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002047.4:c.1715C>T MANE Select	NP_002038.2:p.Pro572Leu
ENST00000389266.8:c.1715C>T MANE Select	ENSP00000373918.3:p.Pro572Leu
NM_001316772.1:c.1553C>T	NP_001303701.1:p.Pro518Leu
NM_002047.2:c.1715C>T , LRG_243t1:c.1715C>T	NP_002038.2:p.Pro572Leu
NM_002047.3:c.1715C>T	NP_002038.2:p.Pro572Leu
ENST00000389266.7:c.1715C>T	ENSP00000373918.3:p.Pro572Leu
ENST00000444666.5:c.370C>T	ENSP00000415447.1:n.370C>T
ENST00000444666.6:c.*136C>T	ENSP00000415447.2:n.*136C>T
ENST00000465748.1:n.86C>T
ENST00000465748.2:n.1196C>T
ENST00000470392.1:n.437C>T
ENST00000470392.2:n.1805C>T
ENST00000485784.2:n.1794C>T
ENST00000496643.2:n.32C>T
ENST00000674616.1:c.*1429C>T	ENSP00000502408.1:n.*1429C>T
ENST00000674643.1:c.*815C>T	ENSP00000501636.1:n.*815C>T
ENST00000674737.1:c.*1053C>T	ENSP00000502464.1:n.*1053C>T
ENST00000674807.1:c.1629C>T	ENSP00000502814.1:p.Ser543=
ENST00000674815.1:c.1346C>T	ENSP00000502799.1:p.Pro449Leu
ENST00000674851.1:c.1346C>T	ENSP00000502451.1:p.Pro449Leu
ENST00000674969.1:n.3588C>T
ENST00000675051.1:c.1514C>T	ENSP00000502296.1:p.Pro505Leu
ENST00000675529.1:c.*1585C>T	ENSP00000501655.1:n.*1585C>T
ENST00000675587.1:n.2547C>T
ENST00000675651.1:c.1715C>T	ENSP00000502513.1:p.Pro572Leu
ENST00000675693.1:c.1547C>T	ENSP00000502174.1:p.Pro516Leu
ENST00000675810.1:c.1613C>T	ENSP00000502743.1:p.Pro538Leu
ENST00000675859.1:c.1629C>T	ENSP00000502033.1:p.Ser543=
ENST00000675863.1:n.1723C>T
ENST00000675886.1:n.7755C>T
ENST00000676088.1:c.*1657C>T	ENSP00000501884.1:n.*1657C>T
ENST00000676140.1:c.*660C>T	ENSP00000502571.1:n.*660C>T
ENST00000676164.1:c.*1166C>T	ENSP00000501986.1:n.*1166C>T
ENST00000676210.1:c.*1004C>T	ENSP00000502373.1:n.*1004C>T
ENST00000676259.1:c.*1147C>T	ENSP00000501980.1:n.*1147C>T
ENST00000676403.1:c.1715C>T	ENSP00000502681.1:p.Pro572Leu
XM_006715686.1:c.1346C>T	XP_006715749.1:p.Pro449Leu
XM_006715686.2:c.1346C>T	XP_006715749.1:p.Pro449Leu