Canonical Allele Identifier: CA1357864723
Gene: MLH1 HGNC NCBI

Linked Data

dbSNP Id: rs2080874646

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993454T>C , CM000665.2:g.36993454T>C GRCh38
NC_000003.11:g.37034945T>C , CM000665.1:g.37034945T>C GRCh37
NC_000003.10:g.37009949T>C NCBI36
NG_007109.2:g.5105T>C , LRG_216:g.5105T>C
NG_008418.1:g.4851A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.-94T>C ENSP00000416476.2:n.-94T>C
ENST00000673673.2:c.-94T>C ENSP00000500979.2:n.-94T>C
ENST00000231790.6:c.-94T>C ENSP00000231790.2:n.-94T>C
ENST00000536378.5:c.-726T>C ENSP00000444286.2:n.-726T>C
NM_000249.3:c.-94T>C , LRG_216t1:c.-94T>C NP_000240.1:n.-94T>C
NM_001258271.1:c.-94T>C NP_001245200.1:n.-94T>C
NM_001258273.1:c.-726T>C NP_001245202.1:n.-726T>C
NM_001167617.2:c.-610T>C NP_001161089.1:n.-610T>C
NM_001167618.2:c.-1039T>C NP_001161090.1:n.-1039T>C
NM_001167619.2:c.-952T>C NP_001161091.1:n.-952T>C
NM_001258274.2:c.-1189T>C NP_001245203.1:n.-1189T>C
NM_001354615.1:c.-720T>C NP_001341544.1:n.-720T>C
NM_001354616.1:c.-720T>C NP_001341545.1:n.-720T>C
NM_001354617.1:c.-812T>C NP_001341546.1:n.-812T>C
NM_001354618.1:c.-1044T>C NP_001341547.1:n.-1044T>C
NM_001354619.1:c.-1168T>C NP_001341548.1:n.-1168T>C
NM_001354620.1:c.-378T>C NP_001341549.1:n.-378T>C
NM_001354621.1:c.-1137T>C NP_001341550.1:n.-1137T>C
NM_001354622.1:c.-1250T>C NP_001341551.1:n.-1250T>C
NM_001354623.1:c.-1159T>C NP_001341552.1:n.-1159T>C
NM_001354624.1:c.-920T>C NP_001341553.1:n.-920T>C
NM_001354625.1:c.-818T>C NP_001341554.1:n.-818T>C
NM_001354626.1:c.-915T>C NP_001341555.1:n.-915T>C
NM_001354627.1:c.-1147T>C NP_001341556.1:n.-1147T>C
NM_001354628.1:c.-94T>C NP_001341557.1:n.-94T>C
NM_001354629.1:c.-94T>C NP_001341558.1:n.-94T>C
NM_001354630.1:c.-94T>C NP_001341559.1:n.-94T>C