Canonical Allele Identifier: CA480258722

Gene: MARS1

Linked Data

• gnomAD v4: 12-57512818-C-T
• MyVariant Identifiers: chr12:g.57906601C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57512818C>T , CM000674.2:g.57512818C>T	GRCh38
NC_000012.11:g.57906601C>T , CM000674.1:g.57906601C>T	GRCh37
NC_000012.10:g.56192868C>T	NCBI36
NG_034077.1:g.29866C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262027.10:c.1821C>T MANE Select	ENSP00000262027.5:p.Ala607=
ENST00000262027.9:c.1821C>T	ENSP00000262027.5:p.Ala607=
ENST00000537638.6:c.*113C>T	ENSP00000446168.2:n.*113C>T
ENST00000545888.6:c.*1322C>T	ENSP00000439307.2:n.*1322C>T
ENST00000546971.5:n.565C>T
ENST00000548202.5:n.328C>T
ENST00000548944.1:c.134-3677C>T	ENSP00000449071.1:n.134-3677C>T
ENST00000549048.1:n.486C>T
ENST00000628866.2:c.*1322C>T	ENSP00000486738.1:n.*1322C>T
NM_004990.3:c.1821C>T	NP_004981.2:p.Ala607=
XM_006719398.2:c.1119C>T	XP_006719461.1:p.Ala373=
XM_011538353.1:c.*113C>T	XP_011536655.1:n.*113C>T
XM_006719398.4:c.1119C>T	XP_006719461.1:p.Ala373=
XR_001748704.2:n.1777C>T
XR_002957327.1:n.1768C>T
NM_004990.4:c.1821C>T MANE Select	NP_004981.2:p.Ala607=