Canonical Allele Identifier: CA385461843

Gene: MARS1

Linked Data

• ClinVar Variation Id: 2009160
• ClinVar RCV Id: RCV002838136
• MyVariant Identifiers: chr12:g.57905849C>G (hg19) ; chr12:g.57512066C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57512066C>G , CM000674.2:g.57512066C>G	GRCh38
NC_000012.11:g.57905849C>G , CM000674.1:g.57905849C>G	GRCh37
NC_000012.10:g.56192116C>G	NCBI36
NG_034077.1:g.29114C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262027.10:c.1598C>G MANE Select	ENSP00000262027.5:p.Thr533Arg
ENST00000262027.9:c.1598C>G	ENSP00000262027.5:p.Thr533Arg
ENST00000447721.6:n.1240C>G
ENST00000537638.6:c.1598C>G	ENSP00000446168.2:p.Thr533Arg
ENST00000545888.6:c.*1099C>G	ENSP00000439307.2:n.*1099C>G
ENST00000546971.5:n.342C>G
ENST00000548630.1:n.159C>G
ENST00000548944.1:c.134-4429C>G	ENSP00000449071.1:n.134-4429C>G
ENST00000549048.1:n.131C>G
ENST00000628866.2:c.*1099C>G	ENSP00000486738.1:n.*1099C>G
NM_004990.3:c.1598C>G	NP_004981.2:p.Thr533Arg
XM_006719398.2:c.896C>G	XP_006719461.1:p.Thr299Arg
XM_011538353.1:c.1598C>G	XP_011536655.1:p.Thr533Arg
XM_006719398.4:c.896C>G	XP_006719461.1:p.Thr299Arg
XR_001748704.2:n.1621C>G
XR_002957327.1:n.1545C>G
NM_004990.4:c.1598C>G MANE Select	NP_004981.2:p.Thr533Arg