Canonical Allele Identifier: CA390445369
Gene: MLH3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75048167A>T , CM000676.2:g.75048167A>T GRCh38
NC_000014.8:g.75514870A>T , CM000676.1:g.75514870A>T GRCh37
NC_000014.7:g.74584623A>T NCBI36
NG_008649.1:g.8366T>A , LRG_217:g.8366T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355774.7:c.1489T>A MANE Select ENSP00000348020.2:p.Leu497Ile
ENST00000355774.6:c.1489T>A ENSP00000348020.2:p.Leu497Ile
ENST00000380968.6:c.1489T>A ENSP00000370355.3:p.Leu497Ile
ENST00000556257.5:c.1489T>A ENSP00000451540.1:p.Leu497Ile
ENST00000556740.5:c.1489T>A ENSP00000452316.1:p.Leu497Ile
NM_001040108.1:c.1489T>A , LRG_217t1:c.1489T>A NP_001035197.1:p.Leu497Ile
NM_014381.2:c.1489T>A NP_055196.2:p.Leu497Ile
XM_005267531.3:c.1489T>A XP_005267588.1:p.Leu497Ile
XM_005267532.3:c.1489T>A XP_005267589.1:p.Leu497Ile
XM_005267533.3:c.1489T>A XP_005267590.1:p.Leu497Ile
XM_005267534.2:c.1489T>A XP_005267591.1:p.Leu497Ile
XM_006720116.2:c.1489T>A XP_006720179.1:p.Leu497Ile
XM_011536646.1:c.1489T>A XP_011534948.1:p.Leu497Ile
XM_011536647.1:c.1489T>A XP_011534949.1:p.Leu497Ile
XM_011536648.1:c.1489T>A XP_011534950.1:p.Leu497Ile
XR_245681.2:n.1705T>A
XM_005267532.5:c.1489T>A XP_005267589.1:p.Leu497Ile
XM_005267533.5:c.1489T>A XP_005267590.1:p.Leu497Ile
XM_005267534.3:c.1489T>A XP_005267591.1:p.Leu497Ile
XM_006720116.4:c.1489T>A XP_006720179.1:p.Leu497Ile
XM_011536646.3:c.1489T>A XP_011534948.1:p.Leu497Ile
XM_017021219.2:c.1489T>A XP_016876708.1:p.Leu497Ile
XM_024449538.1:c.1489T>A XP_024305306.1:p.Leu497Ile
XR_001750225.2:n.1652T>A
XR_001750227.2:n.1652T>A
XR_001750228.2:n.1652T>A
XR_001750229.2:n.1652T>A
XR_001750230.2:n.1652T>A
XR_002957544.1:n.1652T>A
XR_245681.4:n.1652T>A
NM_001040108.2:c.1489T>A MANE Select NP_001035197.1:p.Leu497Ile
NM_014381.3:c.1489T>A NP_055196.2:p.Leu497Ile