Canonical Allele Identifier: CA6650547
Gene: MARS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 384378
dbSNP Id: rs372013808

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57512005C>T , CM000674.2:g.57512005C>T GRCh38
NC_000012.11:g.57905788C>T , CM000674.1:g.57905788C>T GRCh37
NC_000012.10:g.56192055C>T NCBI36
NG_034077.1:g.29053C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262027.10:c.1540-3C>T MANE Select ENSP00000262027.5:n.1540-3C>T
ENST00000262027.9:c.1540-3C>T ENSP00000262027.5:n.1540-3C>T
ENST00000447721.6:n.1182-3C>T
ENST00000537638.6:c.1540-3C>T ENSP00000446168.2:n.1540-3C>T
ENST00000545888.6:c.*1041-3C>T ENSP00000439307.2:n.*1041-3C>T
ENST00000546971.5:n.284-3C>T
ENST00000548630.1:n.101-3C>T
ENST00000548944.1:c.134-4490C>T ENSP00000449071.1:n.134-4490C>T
ENST00000549048.1:n.73-3C>T
ENST00000628866.2:c.*1041-3C>T ENSP00000486738.1:n.*1041-3C>T
NM_004990.3:c.1540-3C>T NP_004981.2:n.1540-3C>T
XM_006719398.2:c.838-3C>T XP_006719461.1:n.838-3C>T
XM_011538353.1:c.1540-3C>T XP_011536655.1:n.1540-3C>T
XM_006719398.4:c.838-3C>T XP_006719461.1:n.838-3C>T
XR_001748704.2:n.1563-3C>T
XR_002957327.1:n.1487-3C>T
NM_004990.4:c.1540-3C>T MANE Select NP_004981.2:n.1540-3C>T