Canonical Allele Identifier: CA2577545006
Gene: MLH1 HGNC NCBI

Linked Data

gnomAD v4: 3-36993456-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993456A>G , CM000665.2:g.36993456A>G GRCh38
NC_000003.11:g.37034947A>G , CM000665.1:g.37034947A>G GRCh37
NC_000003.10:g.37009951A>G NCBI36
NG_007109.2:g.5107A>G , LRG_216:g.5107A>G
NG_008418.1:g.4849T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.-92A>G ENSP00000416476.2:n.-92A>G
ENST00000673673.2:c.-92A>G ENSP00000500979.2:n.-92A>G
ENST00000231790.6:c.-92A>G ENSP00000231790.2:n.-92A>G
ENST00000536378.5:c.-724A>G ENSP00000444286.2:n.-724A>G
NM_000249.3:c.-92A>G , LRG_216t1:c.-92A>G NP_000240.1:n.-92A>G
NM_001258271.1:c.-92A>G NP_001245200.1:n.-92A>G
NM_001258273.1:c.-724A>G NP_001245202.1:n.-724A>G
NM_001167617.2:c.-608A>G NP_001161089.1:n.-608A>G
NM_001167618.2:c.-1037A>G NP_001161090.1:n.-1037A>G
NM_001167619.2:c.-950A>G NP_001161091.1:n.-950A>G
NM_001258274.2:c.-1187A>G NP_001245203.1:n.-1187A>G
NM_001354615.1:c.-718A>G NP_001341544.1:n.-718A>G
NM_001354616.1:c.-718A>G NP_001341545.1:n.-718A>G
NM_001354617.1:c.-810A>G NP_001341546.1:n.-810A>G
NM_001354618.1:c.-1042A>G NP_001341547.1:n.-1042A>G
NM_001354619.1:c.-1166A>G NP_001341548.1:n.-1166A>G
NM_001354620.1:c.-376A>G NP_001341549.1:n.-376A>G
NM_001354621.1:c.-1135A>G NP_001341550.1:n.-1135A>G
NM_001354622.1:c.-1248A>G NP_001341551.1:n.-1248A>G
NM_001354623.1:c.-1157A>G NP_001341552.1:n.-1157A>G
NM_001354624.1:c.-918A>G NP_001341553.1:n.-918A>G
NM_001354625.1:c.-816A>G NP_001341554.1:n.-816A>G
NM_001354626.1:c.-913A>G NP_001341555.1:n.-913A>G
NM_001354627.1:c.-1145A>G NP_001341556.1:n.-1145A>G
NM_001354628.1:c.-92A>G NP_001341557.1:n.-92A>G
NM_001354629.1:c.-92A>G NP_001341558.1:n.-92A>G
NM_001354630.1:c.-92A>G NP_001341559.1:n.-92A>G