Canonical Allele Identifier: CA605705135
Community Standard Title: NM_004990.4(MARS1):c.491-5C>G
Gene: MARS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57490202C>G , CM000674.2:g.57490202C>G GRCh38
NC_000012.11:g.57883985C>G , CM000674.1:g.57883985C>G GRCh37
NC_000012.10:g.56170252C>G NCBI36
NG_034077.1:g.7250C>G
NG_023205.2:g.3613G>C

Transcript Alleles

HGVS Amino-acid Change
NM_004990.4:c.491-5C>G MANE Select NP_004981.2:n.491-5C>G
ENST00000262027.10:c.491-5C>G MANE Select ENSP00000262027.5:n.491-5C>G
NM_004990.3:c.491-5C>G NP_004981.2:n.491-5C>G
ENST00000262027.9:c.491-5C>G ENSP00000262027.5:n.491-5C>G
ENST00000447721.6:n.133-5C>G
ENST00000537638.6:c.491-5C>G ENSP00000446168.2:n.491-5C>G
ENST00000545888.6:c.415-5C>G ENSP00000439307.2:n.415-5C>G
ENST00000547501.5:c.*127-5C>G ENSP00000447145.1:n.*127-5C>G
ENST00000548674.5:n.385-5C>G
ENST00000549074.5:c.201-5C>G ENSP00000447258.1:n.201-5C>G
ENST00000550449.5:n.604-5C>G
ENST00000551431.5:c.280-5C>G ENSP00000446729.1:n.280-5C>G
ENST00000551892.1:c.110-76C>G ENSP00000450018.1:n.110-76C>G
ENST00000552007.5:c.*61-5C>G ENSP00000448576.1:n.*61-5C>G
ENST00000552371.1:c.106-5C>G
ENST00000553123.1:n.715-5C>G
ENST00000628866.2:c.280-5C>G ENSP00000486738.1:n.280-5C>G
ENST00000630803.1:c.110-76C>G ENSP00000486356.1:n.110-76C>G
XM_006719398.2:c.-212-5C>G XP_006719461.1:n.-212-5C>G
XM_006719398.4:c.-212-5C>G XP_006719461.1:n.-212-5C>G
XM_011538353.1:c.491-5C>G XP_011536655.1:n.491-5C>G
XR_001748704.2:n.514-5C>G
XR_002957327.1:n.438-5C>G