Canonical Allele Identifier: CA2619465764

Gene: MARS1

Linked Data

• gnomAD v4: 12-57512031-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57512032dup , CM000674.2:g.57512032dup	GRCh38
NC_000012.11:g.57905815dup , CM000674.1:g.57905815dup	GRCh37
NC_000012.10:g.56192082dup	NCBI36
NG_034077.1:g.29080dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262027.10:c.1564dup MANE Select	ENSP00000262027.5:p.Thr522AsnfsTer?
ENST00000262027.9:c.1564dup	ENSP00000262027.5:p.Thr522AsnfsTer?
ENST00000447721.6:n.1206dup
ENST00000537638.6:c.1564dup	ENSP00000446168.2:p.Thr522AsnfsTer?
ENST00000545888.6:c.*1065dup	ENSP00000439307.2:n.*1065dup
ENST00000546971.5:n.308dup
ENST00000548630.1:n.125dup
ENST00000548944.1:c.134-4463dup	ENSP00000449071.1:n.134-4463dup
ENST00000549048.1:n.97dup
ENST00000628866.2:c.*1065dup	ENSP00000486738.1:n.*1065dup
NM_004990.3:c.1564dup	NP_004981.2:p.Thr522AsnfsTer?
XM_006719398.2:c.862dup	XP_006719461.1:p.Thr288AsnfsTer?
XM_011538353.1:c.1564dup	XP_011536655.1:p.Thr522AsnfsTer?
XM_006719398.4:c.862dup	XP_006719461.1:p.Thr288AsnfsTer?
XR_001748704.2:n.1587dup
XR_002957327.1:n.1511dup
NM_004990.4:c.1564dup MANE Select	NP_004981.2:p.Thr522AsnfsTer?