Canonical Allele Identifier: CA6650625
Community Standard Title: NM_004990.4(MARS1):c.1795G>A (p.Gly599Ser)
Gene: MARS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57512792G>A , CM000674.2:g.57512792G>A GRCh38
NC_000012.11:g.57906575G>A , CM000674.1:g.57906575G>A GRCh37
NC_000012.10:g.56192842G>A NCBI36
NG_034077.1:g.29840G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004990.4:c.1795G>A MANE Select NP_004981.2:p.Gly599Ser
ENST00000262027.10:c.1795G>A MANE Select ENSP00000262027.5:p.Gly599Ser
NM_004990.3:c.1795G>A NP_004981.2:p.Gly599Ser
ENST00000262027.9:c.1795G>A ENSP00000262027.5:p.Gly599Ser
ENST00000537638.6:c.*87G>A ENSP00000446168.2:n.*87G>A
ENST00000545888.6:c.*1296G>A ENSP00000439307.2:n.*1296G>A
ENST00000546971.5:n.539G>A
ENST00000548202.5:n.302G>A
ENST00000548944.1:c.134-3703G>A ENSP00000449071.1:n.134-3703G>A
ENST00000549048.1:n.460G>A
ENST00000628866.2:c.*1296G>A ENSP00000486738.1:n.*1296G>A
XM_006719398.2:c.1093G>A XP_006719461.1:p.Gly365Ser
XM_006719398.4:c.1093G>A XP_006719461.1:p.Gly365Ser
XM_011538353.1:c.*87G>A XP_011536655.1:n.*87G>A
XR_001748704.2:n.1751G>A
XR_002957327.1:n.1742G>A