Canonical Allele Identifier: CA6650896
Community Standard Title: NM_004990.4(MARS1):c.2557-12C>G
Gene: MARS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57516423C>G , CM000674.2:g.57516423C>G GRCh38
NC_000012.11:g.57910206C>G , CM000674.1:g.57910206C>G GRCh37
NC_000012.10:g.56196473C>G NCBI36
NG_027674.1:g.9095G>C
NG_034077.1:g.33471C>G

Transcript Alleles

HGVS Amino-acid Change
NM_004990.4:c.2557-12C>G MANE Select NP_004981.2:n.2557-12C>G
ENST00000262027.10:c.2557-12C>G MANE Select ENSP00000262027.5:n.2557-12C>G
NM_004990.3:c.2557-12C>G NP_004981.2:n.2557-12C>G
ENST00000262027.9:c.2557-12C>G ENSP00000262027.5:n.2557-12C>G
ENST00000537638.6:c.*849-12C>G ENSP00000446168.2:n.*849-12C>G
ENST00000545888.6:c.*2311-12C>G ENSP00000439307.2:n.*2311-12C>G
ENST00000547665.5:c.438C>G
ENST00000548944.1:c.134-72C>G ENSP00000449071.1:n.134-72C>G
ENST00000551172.1:c.487-12C>G
ENST00000552499.5:c.342-12C>G ENSP00000447335.1:n.342-12C>G
ENST00000552914.5:c.514-12C>G ENSP00000449787.1:n.514-12C>G
ENST00000628866.2:c.*2058-12C>G ENSP00000486738.1:n.*2058-12C>G
XM_006719398.2:c.1855-12C>G XP_006719461.1:n.1855-12C>G
XM_006719398.4:c.1855-12C>G XP_006719461.1:n.1855-12C>G
XR_001748704.2:n.2513-12C>G
XR_002957327.1:n.2757-12C>G