Canonical Allele Identifier: CA2665005794
Gene: MLH1 HGNC NCBI

Linked Data

gnomAD v4: 3-36993411-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993411T>A , CM000665.2:g.36993411T>A GRCh38
NC_000003.11:g.37034902T>A , CM000665.1:g.37034902T>A GRCh37
NC_000003.10:g.37009906T>A NCBI36
NG_007109.2:g.5062T>A , LRG_216:g.5062T>A
NG_008418.1:g.4894A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.-137T>A ENSP00000416476.2:n.-137T>A
ENST00000673673.2:c.-137T>A ENSP00000500979.2:n.-137T>A
ENST00000231790.6:c.-137T>A ENSP00000231790.2:n.-137T>A
ENST00000536378.5:c.-769T>A ENSP00000444286.2:n.-769T>A
NM_000249.3:c.-137T>A , LRG_216t1:c.-137T>A NP_000240.1:n.-137T>A
NM_001258271.1:c.-137T>A NP_001245200.1:n.-137T>A
NM_001258273.1:c.-769T>A NP_001245202.1:n.-769T>A
NM_001167617.2:c.-653T>A NP_001161089.1:n.-653T>A
NM_001167618.2:c.-1082T>A NP_001161090.1:n.-1082T>A
NM_001167619.2:c.-995T>A NP_001161091.1:n.-995T>A
NM_001258274.2:c.-1232T>A NP_001245203.1:n.-1232T>A
NM_001354615.1:c.-763T>A NP_001341544.1:n.-763T>A
NM_001354616.1:c.-763T>A NP_001341545.1:n.-763T>A
NM_001354617.1:c.-855T>A NP_001341546.1:n.-855T>A
NM_001354618.1:c.-1087T>A NP_001341547.1:n.-1087T>A
NM_001354619.1:c.-1211T>A NP_001341548.1:n.-1211T>A
NM_001354620.1:c.-421T>A NP_001341549.1:n.-421T>A
NM_001354621.1:c.-1180T>A NP_001341550.1:n.-1180T>A
NM_001354622.1:c.-1293T>A NP_001341551.1:n.-1293T>A
NM_001354623.1:c.-1202T>A NP_001341552.1:n.-1202T>A
NM_001354624.1:c.-963T>A NP_001341553.1:n.-963T>A
NM_001354625.1:c.-861T>A NP_001341554.1:n.-861T>A
NM_001354626.1:c.-958T>A NP_001341555.1:n.-958T>A
NM_001354627.1:c.-1190T>A NP_001341556.1:n.-1190T>A
NM_001354628.1:c.-137T>A NP_001341557.1:n.-137T>A
NM_001354629.1:c.-137T>A NP_001341558.1:n.-137T>A
NM_001354630.1:c.-137T>A NP_001341559.1:n.-137T>A