Canonical Allele Identifier: CA2575202924

Gene: MARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57512042_57512043del , CM000674.2:g.57512042_57512043del	GRCh38
NC_000012.11:g.57905825_57905826del , CM000674.1:g.57905825_57905826del	GRCh37
NC_000012.10:g.56192092_56192093del	NCBI36
NG_034077.1:g.29090_29091del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262027.10:c.1574_1575del MANE Select	ENSP00000262027.5:p.Tyr525SerfsTer?
ENST00000262027.9:c.1574_1575del	ENSP00000262027.5:p.Tyr525SerfsTer?
ENST00000447721.6:n.1216_1217del
ENST00000537638.6:c.1574_1575del	ENSP00000446168.2:p.Tyr525SerfsTer?
ENST00000545888.6:c.*1075_*1076del	ENSP00000439307.2:n.*1075_*1076del
ENST00000546971.5:n.318_319del
ENST00000548630.1:n.135_136del
ENST00000548944.1:c.134-4453_134-4452del	ENSP00000449071.1:n.134-4453_134-4452del
ENST00000549048.1:n.107_108del
ENST00000628866.2:c.*1075_*1076del	ENSP00000486738.1:n.*1075_*1076del
NM_004990.3:c.1574_1575del	NP_004981.2:p.Tyr525SerfsTer?
XM_006719398.2:c.872_873del	XP_006719461.1:p.Tyr291SerfsTer?
XM_011538353.1:c.1574_1575del	XP_011536655.1:p.Tyr525SerfsTer?
XM_006719398.4:c.872_873del	XP_006719461.1:p.Tyr291SerfsTer?
XR_001748704.2:n.1597_1598del
XR_002957327.1:n.1521_1522del
NM_004990.4:c.1574_1575del MANE Select	NP_004981.2:p.Tyr525SerfsTer?