Canonical Allele Identifier: CA198548
Gene: MARS1 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.57515926C>A
GRCh37 chr12:g.57909709C>A
Revel Score:
ENST00000262027 (MANE Select) 0.719
ENST00000315473 0.719
ENST00000552914 0.719
ENST00000547665 0.341
gnomAD v2:
12:57909709 C / A
gnomAD v4:
chr12-57515926-C-A
Joint Max Group AF 0.00046134 (EAS)
Exomes Max Group AF 0.00052207 (EAS)
ClinVar RCV:
RCV000167578
ClinVar Variation:
187857
dbSNP:
781249411
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57515926C>A , CM000674.2:g.57515926C>A GRCh38
NC_000012.11:g.57909709C>A , CM000674.1:g.57909709C>A GRCh37
NC_000012.10:g.56195976C>A NCBI36
NG_027674.1:g.9592G>T
NG_034077.1:g.32974C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262027.10:c.2398C>A MANE Select ENSP00000262027.5:p.Pro800Thr
ENST00000262027.9:c.2398C>A ENSP00000262027.5:p.Pro800Thr
ENST00000537638.6:c.*690C>A ENSP00000446168.2:n.*690C>A
ENST00000545888.6:c.*1899C>A ENSP00000439307.2:n.*1899C>A
ENST00000547665.5:c.194C>A
ENST00000548944.1:c.134-569C>A ENSP00000449071.1:n.134-569C>A
ENST00000551172.1:c.161C>A
ENST00000552499.5:c.163C>A ENSP00000447335.1:p.Pro55Thr
ENST00000552914.5:c.355C>A ENSP00000449787.1:p.Pro119Thr
ENST00000628866.2:c.*1899C>A ENSP00000486738.1:n.*1899C>A
NM_004990.3:c.2398C>A NP_004981.2:p.Pro800Thr
XM_006719398.2:c.1696C>A XP_006719461.1:p.Pro566Thr
XM_006719398.4:c.1696C>A XP_006719461.1:p.Pro566Thr
XR_001748704.2:n.2354C>A
XR_002957327.1:n.2345C>A
NM_004990.4:c.2398C>A MANE Select NP_004981.2:p.Pro800Thr
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