Canonical Allele Identifier: CA6650534

Gene: MARS1

Linked Data

• dbSNP Id: rs780498172
• ExAC: 12:57905613 T / TG
• gnomAD v2: 12-57905613-T-TG
• MyVariant Identifiers: chr12:g.57905613_57905614insG (hg19) ; chr12:g.57511830_57511831insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57511834dup , CM000674.2:g.57511834dup	GRCh38
NC_000012.11:g.57905617dup , CM000674.1:g.57905617dup	GRCh37
NC_000012.10:g.56191884dup	NCBI36
NG_034077.1:g.28882dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262027.10:c.1505dup MANE Select	ENSP00000262027.5:p.Thr503AsnfsTer9
ENST00000262027.9:c.1505dup	ENSP00000262027.5:p.Thr503AsnfsTer9
ENST00000447721.6:n.1147dup
ENST00000537638.6:c.1505dup	ENSP00000446168.2:p.Thr503AsnfsTer9
ENST00000545888.6:c.*1006dup	ENSP00000439307.2:n.*1006dup
ENST00000546971.5:n.249dup
ENST00000548630.1:n.66dup
ENST00000548944.1:c.134-4661dup	ENSP00000449071.1:n.134-4661dup
ENST00000549048.1:n.38dup
ENST00000628866.2:c.*1006dup	ENSP00000486738.1:n.*1006dup
NM_004990.3:c.1505dup	NP_004981.2:p.Thr503AsnfsTer9
XM_006719398.2:c.803dup	XP_006719461.1:p.Thr269AsnfsTer9
XM_011538353.1:c.1505dup	XP_011536655.1:p.Thr503AsnfsTer9
XM_006719398.4:c.803dup	XP_006719461.1:p.Thr269AsnfsTer9
XR_001748704.2:n.1528dup
XR_002957327.1:n.1452dup
NM_004990.4:c.1505dup MANE Select	NP_004981.2:p.Thr503AsnfsTer9