Canonical Allele Identifier: CA690283696

Gene: MARS1

Linked Data

• dbSNP Id: rs1417013739
• MyVariant Identifiers: chr12:g.57905652_57905653insT (hg19) ; chr12:g.57511869_57511870insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57511870dup , CM000674.2:g.57511870dup	GRCh38
NC_000012.11:g.57905653dup , CM000674.1:g.57905653dup	GRCh37
NC_000012.10:g.56191920dup	NCBI36
NG_034077.1:g.28918dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262027.10:c.1539+2dup MANE Select	ENSP00000262027.5:n.1539+2dup
ENST00000262027.9:c.1539+2dup	ENSP00000262027.5:n.1539+2dup
ENST00000447721.6:n.1181+2dup
ENST00000537638.6:c.1539+2dup	ENSP00000446168.2:n.1539+2dup
ENST00000545888.6:c.*1040+2dup	ENSP00000439307.2:n.*1040+2dup
ENST00000546971.5:n.283+2dup
ENST00000548630.1:n.100+2dup
ENST00000548944.1:c.134-4625dup	ENSP00000449071.1:n.134-4625dup
ENST00000549048.1:n.72+2dup
ENST00000628866.2:c.*1040+2dup	ENSP00000486738.1:n.*1040+2dup
NM_004990.3:c.1539+2dup	NP_004981.2:n.1539+2dup
XM_006719398.2:c.837+2dup	XP_006719461.1:n.837+2dup
XM_011538353.1:c.1539+2dup	XP_011536655.1:n.1539+2dup
XM_006719398.4:c.837+2dup	XP_006719461.1:n.837+2dup
XR_001748704.2:n.1562+2dup
XR_002957327.1:n.1486+2dup
NM_004990.4:c.1539+2dup MANE Select	NP_004981.2:n.1539+2dup