Canonical Allele Identifier: CA6650784

Gene: MARS1

Linked Data

• ClinVar Variation Id: 389593
• ClinVar RCV Id: RCV000428931 ; RCV000555547 ; RCV001173652 ; RCV001532701 ; RCV003942439
• dbSNP Id: rs140573721
• ExAC: 12:57909119 A / C
• gnomAD v2: 12-57909119-A-C
• gnomAD v3: 12-57515336-A-C
• gnomAD v4: 12-57515336-A-C
• MyVariant Identifiers: chr12:g.57909119A>C (hg19) ; chr12:g.57515336A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57515336A>C , CM000674.2:g.57515336A>C	GRCh38
NC_000012.11:g.57909119A>C , CM000674.1:g.57909119A>C	GRCh37
NC_000012.10:g.56195386A>C	NCBI36
NG_027674.1:g.10182T>G
NG_034077.1:g.32384A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262027.10:c.2391A>C MANE Select	ENSP00000262027.5:p.Thr797=
ENST00000262027.9:c.2391A>C	ENSP00000262027.5:p.Thr797=
ENST00000537638.6:c.*683A>C	ENSP00000446168.2:n.*683A>C
ENST00000545888.6:c.*1892A>C	ENSP00000439307.2:n.*1892A>C
ENST00000547665.5:c.187A>C
ENST00000548944.1:c.134-1159A>C	ENSP00000449071.1:n.134-1159A>C
ENST00000551172.1:c.154A>C
ENST00000551805.1:n.322A>C
ENST00000552499.5:c.156A>C	ENSP00000447335.1:p.Thr52=
ENST00000552914.5:c.348A>C	ENSP00000449787.1:p.Thr116=
ENST00000628866.2:c.*1892A>C	ENSP00000486738.1:n.*1892A>C
NM_004990.3:c.2391A>C	NP_004981.2:p.Thr797=
XM_006719398.2:c.1689A>C	XP_006719461.1:p.Thr563=
XM_006719398.4:c.1689A>C	XP_006719461.1:p.Thr563=
XR_001748704.2:n.2347A>C
XR_002957327.1:n.2338A>C
NM_004990.4:c.2391A>C MANE Select	NP_004981.2:p.Thr797=