Canonical Allele Identifier: CA237772045
Community Standard Title: NM_004990.4(MARS1):c.2053G>A (p.Val685Ile)
Gene: MARS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57514805G>A , CM000674.2:g.57514805G>A GRCh38
NC_000012.11:g.57908588G>A , CM000674.1:g.57908588G>A GRCh37
NC_000012.10:g.56194855G>A NCBI36
NG_027674.1:g.10713C>T
NG_034077.1:g.31853G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004990.4:c.2053G>A MANE Select NP_004981.2:p.Val685Ile
ENST00000262027.10:c.2053G>A MANE Select ENSP00000262027.5:p.Val685Ile
NM_004990.3:c.2053G>A NP_004981.2:p.Val685Ile
ENST00000262027.9:c.2053G>A ENSP00000262027.5:p.Val685Ile
ENST00000537638.6:c.*345G>A ENSP00000446168.2:n.*345G>A
ENST00000545888.6:c.*1554G>A ENSP00000439307.2:n.*1554G>A
ENST00000548202.5:n.560G>A
ENST00000548944.1:c.134-1690G>A ENSP00000449071.1:n.134-1690G>A
ENST00000549048.1:n.718G>A
ENST00000552914.5:c.121G>A ENSP00000449787.1:p.Val41Ile
ENST00000628866.2:c.*1554G>A ENSP00000486738.1:n.*1554G>A
XM_006719398.2:c.1351G>A XP_006719461.1:p.Val451Ile
XM_006719398.4:c.1351G>A XP_006719461.1:p.Val451Ile
XR_001748704.2:n.2009G>A
XR_002957327.1:n.2000G>A