Canonical Allele Identifier: CA480395805

Gene: MARS1

Linked Data

• gnomAD v4: 12-57511838-C-A
• MyVariant Identifiers: chr12:g.57905621C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57511838C>A , CM000674.2:g.57511838C>A	GRCh38
NC_000012.11:g.57905621C>A , CM000674.1:g.57905621C>A	GRCh37
NC_000012.10:g.56191888C>A	NCBI36
NG_034077.1:g.28886C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262027.10:c.1509C>A MANE Select	ENSP00000262027.5:p.Thr503=
ENST00000262027.9:c.1509C>A	ENSP00000262027.5:p.Thr503=
ENST00000447721.6:n.1151C>A
ENST00000537638.6:c.1509C>A	ENSP00000446168.2:p.Thr503=
ENST00000545888.6:c.*1010C>A	ENSP00000439307.2:n.*1010C>A
ENST00000546971.5:n.253C>A
ENST00000548630.1:n.70C>A
ENST00000548944.1:c.134-4657C>A	ENSP00000449071.1:n.134-4657C>A
ENST00000549048.1:n.42C>A
ENST00000628866.2:c.*1010C>A	ENSP00000486738.1:n.*1010C>A
NM_004990.3:c.1509C>A	NP_004981.2:p.Thr503=
XM_006719398.2:c.807C>A	XP_006719461.1:p.Thr269=
XM_011538353.1:c.1509C>A	XP_011536655.1:p.Thr503=
XM_006719398.4:c.807C>A	XP_006719461.1:p.Thr269=
XR_001748704.2:n.1532C>A
XR_002957327.1:n.1456C>A
NM_004990.4:c.1509C>A MANE Select	NP_004981.2:p.Thr503=