Canonical Allele Identifier: CA385463028

Gene: MARS1

Linked Data

• gnomAD v4: 12-57512825-A-T
• MyVariant Identifiers: chr12:g.57906608A>T (hg19) ; chr12:g.57512825A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57512825A>T , CM000674.2:g.57512825A>T	GRCh38
NC_000012.11:g.57906608A>T , CM000674.1:g.57906608A>T	GRCh37
NC_000012.10:g.56192875A>T	NCBI36
NG_034077.1:g.29873A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262027.10:c.1828A>T MANE Select	ENSP00000262027.5:p.Thr610Ser
ENST00000262027.9:c.1828A>T	ENSP00000262027.5:p.Thr610Ser
ENST00000537638.6:c.*120A>T	ENSP00000446168.2:n.*120A>T
ENST00000545888.6:c.*1329A>T	ENSP00000439307.2:n.*1329A>T
ENST00000546971.5:n.572A>T
ENST00000548202.5:n.335A>T
ENST00000548944.1:c.134-3670A>T	ENSP00000449071.1:n.134-3670A>T
ENST00000549048.1:n.493A>T
ENST00000628866.2:c.*1329A>T	ENSP00000486738.1:n.*1329A>T
NM_004990.3:c.1828A>T	NP_004981.2:p.Thr610Ser
XM_006719398.2:c.1126A>T	XP_006719461.1:p.Thr376Ser
XM_011538353.1:c.*120A>T	XP_011536655.1:n.*120A>T
XM_006719398.4:c.1126A>T	XP_006719461.1:p.Thr376Ser
XR_001748704.2:n.1784A>T
XR_002957327.1:n.1775A>T
NM_004990.4:c.1828A>T MANE Select	NP_004981.2:p.Thr610Ser