Canonical Allele Identifier: CA6650877
Community Standard Title: NM_004990.4(MARS1):c.2531C>T (p.Ala844Val)
Gene: MARS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57516312C>T , CM000674.2:g.57516312C>T GRCh38
NC_000012.11:g.57910095C>T , CM000674.1:g.57910095C>T GRCh37
NC_000012.10:g.56196362C>T NCBI36
NG_027674.1:g.9206G>A
NG_034077.1:g.33360C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004990.4:c.2531C>T MANE Select NP_004981.2:p.Ala844Val
ENST00000262027.10:c.2531C>T MANE Select ENSP00000262027.5:p.Ala844Val
NM_004990.3:c.2531C>T NP_004981.2:p.Ala844Val
ENST00000262027.9:c.2531C>T ENSP00000262027.5:p.Ala844Val
ENST00000537638.6:c.*823C>T ENSP00000446168.2:n.*823C>T
ENST00000545888.6:c.*2285C>T ENSP00000439307.2:n.*2285C>T
ENST00000547665.5:c.327C>T
ENST00000548944.1:c.134-183C>T ENSP00000449071.1:n.134-183C>T
ENST00000551172.1:c.461C>T
ENST00000552499.5:c.316C>T ENSP00000447335.1:n.316C>T
ENST00000552914.5:c.488C>T ENSP00000449787.1:p.Ala163Val
ENST00000628866.2:c.*2032C>T ENSP00000486738.1:n.*2032C>T
XM_006719398.2:c.1829C>T XP_006719461.1:p.Ala610Val
XM_006719398.4:c.1829C>T XP_006719461.1:p.Ala610Val
XR_001748704.2:n.2487C>T
XR_002957327.1:n.2731C>T