Canonical Allele Identifier: CA2665005858
Gene: MLH1 HGNC NCBI

Linked Data

gnomAD v4: 3-36993483-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993483A>T , CM000665.2:g.36993483A>T GRCh38
NC_000003.11:g.37034974A>T , CM000665.1:g.37034974A>T GRCh37
NC_000003.10:g.37009978A>T NCBI36
NG_007109.2:g.5134A>T , LRG_216:g.5134A>T
NG_008418.1:g.4822T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.-65A>T ENSP00000416476.2:n.-65A>T
ENST00000616768.6:c.-65A>T ENSP00000480669.3:n.-65A>T
ENST00000673673.2:c.-65A>T ENSP00000500979.2:n.-65A>T
ENST00000231790.6:c.-65A>T ENSP00000231790.2:n.-65A>T
ENST00000536378.5:c.-697A>T ENSP00000444286.2:n.-697A>T
NM_000249.3:c.-65A>T , LRG_216t1:c.-65A>T NP_000240.1:n.-65A>T
NM_001258271.1:c.-65A>T NP_001245200.1:n.-65A>T
NM_001258273.1:c.-697A>T NP_001245202.1:n.-697A>T
XM_005265161.1:c.-65A>T XP_005265218.1:n.-65A>T
NM_001167617.2:c.-581A>T NP_001161089.1:n.-581A>T
NM_001167618.2:c.-1010A>T NP_001161090.1:n.-1010A>T
NM_001167619.2:c.-923A>T NP_001161091.1:n.-923A>T
NM_001258274.2:c.-1160A>T NP_001245203.1:n.-1160A>T
NM_001354615.1:c.-691A>T NP_001341544.1:n.-691A>T
NM_001354616.1:c.-691A>T NP_001341545.1:n.-691A>T
NM_001354617.1:c.-783A>T NP_001341546.1:n.-783A>T
NM_001354618.1:c.-1015A>T NP_001341547.1:n.-1015A>T
NM_001354619.1:c.-1139A>T NP_001341548.1:n.-1139A>T
NM_001354620.1:c.-349A>T NP_001341549.1:n.-349A>T
NM_001354621.1:c.-1108A>T NP_001341550.1:n.-1108A>T
NM_001354622.1:c.-1221A>T NP_001341551.1:n.-1221A>T
NM_001354623.1:c.-1130A>T NP_001341552.1:n.-1130A>T
NM_001354624.1:c.-891A>T NP_001341553.1:n.-891A>T
NM_001354625.1:c.-789A>T NP_001341554.1:n.-789A>T
NM_001354626.1:c.-886A>T NP_001341555.1:n.-886A>T
NM_001354627.1:c.-1118A>T NP_001341556.1:n.-1118A>T
NM_001354628.1:c.-65A>T NP_001341557.1:n.-65A>T
NM_001354629.1:c.-65A>T NP_001341558.1:n.-65A>T
NM_001354630.1:c.-65A>T NP_001341559.1:n.-65A>T