Canonical Allele Identifier: CA385461387

Gene: MARS1

Linked Data

• ClinVar Variation Id: 1681737
• ClinVar RCV Id: RCV002239239 ; RCV002511139 ; RCV004045082
• dbSNP Id: rs1173899198
• gnomAD v2: 12-57905557-C-T
• gnomAD v3: 12-57511774-C-T
• gnomAD v4: 12-57511774-C-T
• MyVariant Identifiers: chr12:g.57905557C>T (hg19) ; chr12:g.57511774C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57511774C>T , CM000674.2:g.57511774C>T	GRCh38
NC_000012.11:g.57905557C>T , CM000674.1:g.57905557C>T	GRCh37
NC_000012.10:g.56191824C>T	NCBI36
NG_034077.1:g.28822C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262027.10:c.1445C>T MANE Select	ENSP00000262027.5:p.Thr482Ile
ENST00000262027.9:c.1445C>T	ENSP00000262027.5:p.Thr482Ile
ENST00000447721.6:n.1087C>T
ENST00000537638.6:c.1445C>T	ENSP00000446168.2:p.Thr482Ile
ENST00000545888.6:c.*946C>T	ENSP00000439307.2:n.*946C>T
ENST00000546971.5:n.189C>T
ENST00000548630.1:n.6C>T
ENST00000548944.1:c.134-4721C>T	ENSP00000449071.1:n.134-4721C>T
ENST00000549603.1:n.391C>T
ENST00000628866.2:c.*946C>T	ENSP00000486738.1:n.*946C>T
NM_004990.3:c.1445C>T	NP_004981.2:p.Thr482Ile
XM_006719398.2:c.743C>T	XP_006719461.1:p.Thr248Ile
XM_011538353.1:c.1445C>T	XP_011536655.1:p.Thr482Ile
XM_006719398.4:c.743C>T	XP_006719461.1:p.Thr248Ile
XR_001748704.2:n.1468C>T
XR_002957327.1:n.1392C>T
NM_004990.4:c.1445C>T MANE Select	NP_004981.2:p.Thr482Ile