Canonical Allele Identifier: CA948098832

Gene: MARS1

Linked Data

• dbSNP Id: rs1877536895
• gnomAD v3: 12-57511855-GT-G
• gnomAD v4: 12-57511855-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57511859del , CM000674.2:g.57511859del	GRCh38
NC_000012.11:g.57905642del , CM000674.1:g.57905642del	GRCh37
NC_000012.10:g.56191909del	NCBI36
NG_034077.1:g.28907del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262027.10:c.1530del MANE Select	ENSP00000262027.5:p.Phe510LeufsTer?
ENST00000262027.9:c.1530del	ENSP00000262027.5:p.Phe510LeufsTer?
ENST00000447721.6:n.1172del
ENST00000537638.6:c.1530del	ENSP00000446168.2:p.Phe510LeufsTer?
ENST00000545888.6:c.*1031del	ENSP00000439307.2:n.*1031del
ENST00000546971.5:n.274del
ENST00000548630.1:n.91del
ENST00000548944.1:c.134-4636del	ENSP00000449071.1:n.134-4636del
ENST00000549048.1:n.63del
ENST00000628866.2:c.*1031del	ENSP00000486738.1:n.*1031del
NM_004990.3:c.1530del	NP_004981.2:p.Phe510LeufsTer?
XM_006719398.2:c.828del	XP_006719461.1:p.Phe276LeufsTer?
XM_011538353.1:c.1530del	XP_011536655.1:p.Phe510LeufsTer?
XM_006719398.4:c.828del	XP_006719461.1:p.Phe276LeufsTer?
XR_001748704.2:n.1553del
XR_002957327.1:n.1477del
NM_004990.4:c.1530del MANE Select	NP_004981.2:p.Phe510LeufsTer?