Canonical Allele Identifier: CA237807233
Community Standard Title: NM_004990.4(MARS1):c.323A>G (p.Lys108Arg)
Gene: MARS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57489467A>G , CM000674.2:g.57489467A>G GRCh38
NC_000012.11:g.57883250A>G , CM000674.1:g.57883250A>G GRCh37
NC_000012.10:g.56169517A>G NCBI36
NG_034077.1:g.6515A>G
NG_023205.2:g.4348T>C

Transcript Alleles

HGVS Amino-acid Change
NM_004990.4:c.323A>G MANE Select NP_004981.2:p.Lys108Arg
ENST00000262027.10:c.323A>G MANE Select ENSP00000262027.5:p.Lys108Arg
NM_004990.3:c.323A>G NP_004981.2:p.Lys108Arg
ENST00000262027.9:c.323A>G ENSP00000262027.5:p.Lys108Arg
ENST00000447721.6:n.133-740A>G
ENST00000537638.6:c.323A>G ENSP00000446168.2:p.Lys108Arg
ENST00000545888.6:c.323A>G ENSP00000439307.2:p.Lys108Arg
ENST00000546481.1:n.509A>G
ENST00000547501.5:c.292A>G ENSP00000447145.1:p.Arg98Gly
ENST00000548674.5:n.293A>G
ENST00000548714.5:n.424A>G
ENST00000549074.5:c.200+358A>G ENSP00000447258.1:n.200+358A>G
ENST00000550449.5:n.436A>G
ENST00000551431.5:c.279+122A>G ENSP00000446729.1:n.279+122A>G
ENST00000551842.5:n.346A>G
ENST00000551892.1:c.110-811A>G ENSP00000450018.1:n.110-811A>G
ENST00000552007.5:c.200+358A>G ENSP00000448576.1:n.200+358A>G
ENST00000553123.1:n.547A>G
ENST00000553162.5:n.346A>G
ENST00000628866.2:c.279+122A>G ENSP00000486738.1:n.279+122A>G
ENST00000630571.2:c.200+358A>G ENSP00000485951.1:n.200+358A>G
ENST00000630803.1:c.110-811A>G ENSP00000486356.1:n.110-811A>G
XM_006719398.2:c.-304A>G XP_006719461.1:n.-304A>G
XM_006719398.4:c.-304A>G XP_006719461.1:n.-304A>G
XM_011538353.1:c.323A>G XP_011536655.1:p.Lys108Arg
XR_001748704.2:n.346A>G
XR_002957327.1:n.346A>G