Canonical Allele Identifier: CA480258729

Gene: MARS1

Linked Data

• gnomAD v4: 12-57512821-G-A
• MyVariant Identifiers: chr12:g.57906604G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57512821G>A , CM000674.2:g.57512821G>A	GRCh38
NC_000012.11:g.57906604G>A , CM000674.1:g.57906604G>A	GRCh37
NC_000012.10:g.56192871G>A	NCBI36
NG_034077.1:g.29869G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262027.10:c.1824G>A MANE Select	ENSP00000262027.5:p.Gln608=
ENST00000262027.9:c.1824G>A	ENSP00000262027.5:p.Gln608=
ENST00000537638.6:c.*116G>A	ENSP00000446168.2:n.*116G>A
ENST00000545888.6:c.*1325G>A	ENSP00000439307.2:n.*1325G>A
ENST00000546971.5:n.568G>A
ENST00000548202.5:n.331G>A
ENST00000548944.1:c.134-3674G>A	ENSP00000449071.1:n.134-3674G>A
ENST00000549048.1:n.489G>A
ENST00000628866.2:c.*1325G>A	ENSP00000486738.1:n.*1325G>A
NM_004990.3:c.1824G>A	NP_004981.2:p.Gln608=
XM_006719398.2:c.1122G>A	XP_006719461.1:p.Gln374=
XM_011538353.1:c.*116G>A	XP_011536655.1:n.*116G>A
XM_006719398.4:c.1122G>A	XP_006719461.1:p.Gln374=
XR_001748704.2:n.1780G>A
XR_002957327.1:n.1771G>A
NM_004990.4:c.1824G>A MANE Select	NP_004981.2:p.Gln608=