Canonical Allele Identifier: CA2665005746
Gene: MLH1 HGNC NCBI

Linked Data

gnomAD v4: 3-36993354-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993354A>T , CM000665.2:g.36993354A>T GRCh38
NC_000003.11:g.37034845A>T , CM000665.1:g.37034845A>T GRCh37
NC_000003.10:g.37009849A>T NCBI36
NG_007109.2:g.5005A>T , LRG_216:g.5005A>T
NG_008418.1:g.4951T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673673.2:c.-194A>T ENSP00000500979.2:n.-194A>T
ENST00000231790.6:c.-194A>T ENSP00000231790.2:n.-194A>T
ENST00000536378.5:c.-826A>T ENSP00000444286.2:n.-826A>T
NM_000249.3:c.-194A>T , LRG_216t1:c.-194A>T NP_000240.1:n.-194A>T
NM_001258271.1:c.-194A>T NP_001245200.1:n.-194A>T
NM_001258273.1:c.-826A>T NP_001245202.1:n.-826A>T
NM_001167617.2:c.-710A>T NP_001161089.1:n.-710A>T
NM_001167618.2:c.-1139A>T NP_001161090.1:n.-1139A>T
NM_001167619.2:c.-1052A>T NP_001161091.1:n.-1052A>T
NM_001258274.2:c.-1289A>T NP_001245203.1:n.-1289A>T
NM_001354615.1:c.-820A>T NP_001341544.1:n.-820A>T
NM_001354616.1:c.-820A>T NP_001341545.1:n.-820A>T
NM_001354617.1:c.-912A>T NP_001341546.1:n.-912A>T
NM_001354618.1:c.-1144A>T NP_001341547.1:n.-1144A>T
NM_001354619.1:c.-1268A>T NP_001341548.1:n.-1268A>T
NM_001354620.1:c.-478A>T NP_001341549.1:n.-478A>T
NM_001354621.1:c.-1237A>T NP_001341550.1:n.-1237A>T
NM_001354622.1:c.-1350A>T NP_001341551.1:n.-1350A>T
NM_001354623.1:c.-1259A>T NP_001341552.1:n.-1259A>T
NM_001354624.1:c.-1020A>T NP_001341553.1:n.-1020A>T
NM_001354625.1:c.-918A>T NP_001341554.1:n.-918A>T
NM_001354626.1:c.-1015A>T NP_001341555.1:n.-1015A>T
NM_001354627.1:c.-1247A>T NP_001341556.1:n.-1247A>T
NM_001354628.1:c.-194A>T NP_001341557.1:n.-194A>T
NM_001354629.1:c.-194A>T NP_001341558.1:n.-194A>T
NM_001354630.1:c.-194A>T NP_001341559.1:n.-194A>T