Canonical Allele Identifier: CA385463050

Gene: MARS1

Linked Data

• MyVariant Identifiers: chr12:g.57906617C>A (hg19) ; chr12:g.57512834C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57512834C>A , CM000674.2:g.57512834C>A	GRCh38
NC_000012.11:g.57906617C>A , CM000674.1:g.57906617C>A	GRCh37
NC_000012.10:g.56192884C>A	NCBI36
NG_034077.1:g.29882C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262027.10:c.1837C>A MANE Select	ENSP00000262027.5:p.Pro613Thr
ENST00000262027.9:c.1837C>A	ENSP00000262027.5:p.Pro613Thr
ENST00000537638.6:c.*129C>A	ENSP00000446168.2:n.*129C>A
ENST00000545888.6:c.*1338C>A	ENSP00000439307.2:n.*1338C>A
ENST00000546971.5:n.581C>A
ENST00000548202.5:n.344C>A
ENST00000548944.1:c.134-3661C>A	ENSP00000449071.1:n.134-3661C>A
ENST00000549048.1:n.502C>A
ENST00000628866.2:c.*1338C>A	ENSP00000486738.1:n.*1338C>A
NM_004990.3:c.1837C>A	NP_004981.2:p.Pro613Thr
XM_006719398.2:c.1135C>A	XP_006719461.1:p.Pro379Thr
XM_011538353.1:c.*129C>A	XP_011536655.1:n.*129C>A
XM_006719398.4:c.1135C>A	XP_006719461.1:p.Pro379Thr
XR_001748704.2:n.1793C>A
XR_002957327.1:n.1784C>A
NM_004990.4:c.1837C>A MANE Select	NP_004981.2:p.Pro613Thr