Canonical Allele Identifier: CA6650628
Gene: MARS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 475416
dbSNP Id: rs117633211

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57512809G>A , CM000674.2:g.57512809G>A GRCh38
NC_000012.11:g.57906592G>A , CM000674.1:g.57906592G>A GRCh37
NC_000012.10:g.56192859G>A NCBI36
NG_034077.1:g.29857G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000262027.10:c.1812G>A MANE Select ENSP00000262027.5:p.Gly604=
ENST00000262027.9:c.1812G>A ENSP00000262027.5:p.Gly604=
ENST00000537638.6:c.*104G>A ENSP00000446168.2:n.*104G>A
ENST00000545888.6:c.*1313G>A ENSP00000439307.2:n.*1313G>A
ENST00000546971.5:n.556G>A
ENST00000548202.5:n.319G>A
ENST00000548944.1:c.134-3686G>A ENSP00000449071.1:n.134-3686G>A
ENST00000549048.1:n.477G>A
ENST00000628866.2:c.*1313G>A ENSP00000486738.1:n.*1313G>A
NM_004990.3:c.1812G>A NP_004981.2:p.Gly604=
XM_006719398.2:c.1110G>A XP_006719461.1:p.Gly370=
XM_011538353.1:c.*104G>A XP_011536655.1:n.*104G>A
XM_006719398.4:c.1110G>A XP_006719461.1:p.Gly370=
XR_001748704.2:n.1768G>A
XR_002957327.1:n.1759G>A
NM_004990.4:c.1812G>A MANE Select NP_004981.2:p.Gly604=