Canonical Allele Identifier: CA237772790
Community Standard Title: NM_004990.4(MARS1):c.2391+3A>G
Gene: MARS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57515339A>G , CM000674.2:g.57515339A>G GRCh38
NC_000012.11:g.57909122A>G , CM000674.1:g.57909122A>G GRCh37
NC_000012.10:g.56195389A>G NCBI36
NG_027674.1:g.10179T>C
NG_034077.1:g.32387A>G

Transcript Alleles

HGVS Amino-acid Change
NM_004990.4:c.2391+3A>G MANE Select NP_004981.2:n.2391+3A>G
ENST00000262027.10:c.2391+3A>G MANE Select ENSP00000262027.5:n.2391+3A>G
NM_004990.3:c.2391+3A>G NP_004981.2:n.2391+3A>G
ENST00000262027.9:c.2391+3A>G ENSP00000262027.5:n.2391+3A>G
ENST00000537638.6:c.*683+3A>G ENSP00000446168.2:n.*683+3A>G
ENST00000545888.6:c.*1892+3A>G ENSP00000439307.2:n.*1892+3A>G
ENST00000547665.5:c.187+3A>G
ENST00000548944.1:c.134-1156A>G ENSP00000449071.1:n.134-1156A>G
ENST00000551172.1:c.154+3A>G
ENST00000551805.1:n.325A>G
ENST00000552499.5:c.156+3A>G ENSP00000447335.1:n.156+3A>G
ENST00000552914.5:c.348+3A>G ENSP00000449787.1:n.348+3A>G
ENST00000628866.2:c.*1892+3A>G ENSP00000486738.1:n.*1892+3A>G
XM_006719398.2:c.1689+3A>G XP_006719461.1:n.1689+3A>G
XM_006719398.4:c.1689+3A>G XP_006719461.1:n.1689+3A>G
XR_001748704.2:n.2347+3A>G
XR_002957327.1:n.2338+3A>G