Canonical Allele Identifier: CA390445386
Gene: MLH3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75048171G>T , CM000676.2:g.75048171G>T GRCh38
NC_000014.8:g.75514874G>T , CM000676.1:g.75514874G>T GRCh37
NC_000014.7:g.74584627G>T NCBI36
NG_008649.1:g.8362C>A , LRG_217:g.8362C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355774.7:c.1485C>A MANE Select ENSP00000348020.2:p.Ser495Arg
ENST00000355774.6:c.1485C>A ENSP00000348020.2:p.Ser495Arg
ENST00000380968.6:c.1485C>A ENSP00000370355.3:p.Ser495Arg
ENST00000556257.5:c.1485C>A ENSP00000451540.1:p.Ser495Arg
ENST00000556740.5:c.1485C>A ENSP00000452316.1:p.Ser495Arg
NM_001040108.1:c.1485C>A , LRG_217t1:c.1485C>A NP_001035197.1:p.Ser495Arg
NM_014381.2:c.1485C>A NP_055196.2:p.Ser495Arg
XM_005267531.3:c.1485C>A XP_005267588.1:p.Ser495Arg
XM_005267532.3:c.1485C>A XP_005267589.1:p.Ser495Arg
XM_005267533.3:c.1485C>A XP_005267590.1:p.Ser495Arg
XM_005267534.2:c.1485C>A XP_005267591.1:p.Ser495Arg
XM_006720116.2:c.1485C>A XP_006720179.1:p.Ser495Arg
XM_011536646.1:c.1485C>A XP_011534948.1:p.Ser495Arg
XM_011536647.1:c.1485C>A XP_011534949.1:p.Ser495Arg
XM_011536648.1:c.1485C>A XP_011534950.1:p.Ser495Arg
XR_245681.2:n.1701C>A
XM_005267532.5:c.1485C>A XP_005267589.1:p.Ser495Arg
XM_005267533.5:c.1485C>A XP_005267590.1:p.Ser495Arg
XM_005267534.3:c.1485C>A XP_005267591.1:p.Ser495Arg
XM_006720116.4:c.1485C>A XP_006720179.1:p.Ser495Arg
XM_011536646.3:c.1485C>A XP_011534948.1:p.Ser495Arg
XM_017021219.2:c.1485C>A XP_016876708.1:p.Ser495Arg
XM_024449538.1:c.1485C>A XP_024305306.1:p.Ser495Arg
XR_001750225.2:n.1648C>A
XR_001750227.2:n.1648C>A
XR_001750228.2:n.1648C>A
XR_001750229.2:n.1648C>A
XR_001750230.2:n.1648C>A
XR_002957544.1:n.1648C>A
XR_245681.4:n.1648C>A
NM_001040108.2:c.1485C>A MANE Select NP_001035197.1:p.Ser495Arg
NM_014381.3:c.1485C>A NP_055196.2:p.Ser495Arg