Canonical Allele Identifier: CA237768093
Gene: MARS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1799859
ClinVar RCV Id: RCV004066562
dbSNP Id: rs1032041433

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57511842G>A , CM000674.2:g.57511842G>A GRCh38
NC_000012.11:g.57905625G>A , CM000674.1:g.57905625G>A GRCh37
NC_000012.10:g.56191892G>A NCBI36
NG_034077.1:g.28890G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262027.10:c.1513G>A MANE Select ENSP00000262027.5:p.Val505Ile
ENST00000262027.9:c.1513G>A ENSP00000262027.5:p.Val505Ile
ENST00000447721.6:n.1155G>A
ENST00000537638.6:c.1513G>A ENSP00000446168.2:p.Val505Ile
ENST00000545888.6:c.*1014G>A ENSP00000439307.2:n.*1014G>A
ENST00000546971.5:n.257G>A
ENST00000548630.1:n.74G>A
ENST00000548944.1:c.134-4653G>A ENSP00000449071.1:n.134-4653G>A
ENST00000549048.1:n.46G>A
ENST00000628866.2:c.*1014G>A ENSP00000486738.1:n.*1014G>A
NM_004990.3:c.1513G>A NP_004981.2:p.Val505Ile
XM_006719398.2:c.811G>A XP_006719461.1:p.Val271Ile
XM_011538353.1:c.1513G>A XP_011536655.1:p.Val505Ile
XM_006719398.4:c.811G>A XP_006719461.1:p.Val271Ile
XR_001748704.2:n.1536G>A
XR_002957327.1:n.1460G>A
NM_004990.4:c.1513G>A MANE Select NP_004981.2:p.Val505Ile