Canonical Allele Identifier: CA6650715
Gene: MARS1 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.57514970C>T
GRCh37 chr12:g.57908753C>T
Revel Score:
ENST00000262027 (MANE Select) 0.206
ENST00000315473 0.206
ENST00000552914 0.206
gnomAD v2:
12:57908753 C / T
gnomAD v3:
12:57514970 C / T
gnomAD v4:
chr12-57514970-C-T
Joint Max Group AF 0.00064718 (NFE)
Genomes Max Group AF 0.00065096 (NFE)
Exomes Max Group AF 0.0006374 (NFE)
ClinVar Allele:
463131
ClinVar RCV:
RCV000536467
RCV001173432
RCV004024320
ClinVar Variation:
475419
dbSNP:
148501787
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57514970C>T , CM000674.2:g.57514970C>T GRCh38
NC_000012.11:g.57908753C>T , CM000674.1:g.57908753C>T GRCh37
NC_000012.10:g.56195020C>T NCBI36
NG_027674.1:g.10548G>A
NG_034077.1:g.32018C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262027.10:c.2116C>T MANE Select ENSP00000262027.5:p.Arg706Cys
ENST00000262027.9:c.2116C>T ENSP00000262027.5:p.Arg706Cys
ENST00000537638.6:c.*408C>T ENSP00000446168.2:n.*408C>T
ENST00000545888.6:c.*1617C>T ENSP00000439307.2:n.*1617C>T
ENST00000548202.5:n.623C>T
ENST00000548944.1:c.134-1525C>T ENSP00000449071.1:n.134-1525C>T
ENST00000551805.1:n.47C>T
ENST00000552914.5:c.184C>T ENSP00000449787.1:p.Arg62Cys
ENST00000628866.2:c.*1617C>T ENSP00000486738.1:n.*1617C>T
NM_004990.3:c.2116C>T NP_004981.2:p.Arg706Cys
XM_006719398.2:c.1414C>T XP_006719461.1:p.Arg472Cys
XM_006719398.4:c.1414C>T XP_006719461.1:p.Arg472Cys
XR_001748704.2:n.2072C>T
XR_002957327.1:n.2063C>T
NM_004990.4:c.2116C>T MANE Select NP_004981.2:p.Arg706Cys
Search 100 bp 5'
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