Canonical Allele Identifier: CA6650732
Community Standard Title: NM_004990.4(MARS1):c.2204+10C>T
Gene: MARS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57515068C>T , CM000674.2:g.57515068C>T GRCh38
NC_000012.11:g.57908851C>T , CM000674.1:g.57908851C>T GRCh37
NC_000012.10:g.56195118C>T NCBI36
NG_027674.1:g.10450G>A
NG_034077.1:g.32116C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004990.4:c.2204+10C>T MANE Select NP_004981.2:n.2204+10C>T
ENST00000262027.10:c.2204+10C>T MANE Select ENSP00000262027.5:n.2204+10C>T
NM_004990.3:c.2204+10C>T NP_004981.2:n.2204+10C>T
ENST00000262027.9:c.2204+10C>T ENSP00000262027.5:n.2204+10C>T
ENST00000537638.6:c.*496+10C>T ENSP00000446168.2:n.*496+10C>T
ENST00000545888.6:c.*1705+10C>T ENSP00000439307.2:n.*1705+10C>T
ENST00000548202.5:n.711+10C>T
ENST00000548944.1:c.134-1427C>T ENSP00000449071.1:n.134-1427C>T
ENST00000551805.1:n.135+10C>T
ENST00000552914.5:c.228+54C>T ENSP00000449787.1:n.228+54C>T
ENST00000628866.2:c.*1705+10C>T ENSP00000486738.1:n.*1705+10C>T
XM_006719398.2:c.1502+10C>T XP_006719461.1:n.1502+10C>T
XM_006719398.4:c.1502+10C>T XP_006719461.1:n.1502+10C>T
XR_001748704.2:n.2160+10C>T
XR_002957327.1:n.2151+10C>T