Canonical Allele Identifier: CA2755860830
Gene: MLH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993472A>C , CM000665.2:g.36993472A>C GRCh38
NC_000003.11:g.37034963A>C , CM000665.1:g.37034963A>C GRCh37
NC_000003.10:g.37009967A>C NCBI36
NG_007109.2:g.5123A>C , LRG_216:g.5123A>C
NG_008418.1:g.4833T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.-76A>C ENSP00000416476.2:n.-76A>C
ENST00000616768.6:c.-76A>C ENSP00000480669.3:n.-76A>C
ENST00000673673.2:c.-76A>C ENSP00000500979.2:n.-76A>C
ENST00000231790.6:c.-76A>C ENSP00000231790.2:n.-76A>C
ENST00000536378.5:c.-708A>C ENSP00000444286.2:n.-708A>C
NM_000249.3:c.-76A>C , LRG_216t1:c.-76A>C NP_000240.1:n.-76A>C
NM_001258271.1:c.-76A>C NP_001245200.1:n.-76A>C
NM_001258273.1:c.-708A>C NP_001245202.1:n.-708A>C
XM_005265161.1:c.-76A>C XP_005265218.1:n.-76A>C
NM_001167617.2:c.-592A>C NP_001161089.1:n.-592A>C
NM_001167618.2:c.-1021A>C NP_001161090.1:n.-1021A>C
NM_001167619.2:c.-934A>C NP_001161091.1:n.-934A>C
NM_001258274.2:c.-1171A>C NP_001245203.1:n.-1171A>C
NM_001354615.1:c.-702A>C NP_001341544.1:n.-702A>C
NM_001354616.1:c.-702A>C NP_001341545.1:n.-702A>C
NM_001354617.1:c.-794A>C NP_001341546.1:n.-794A>C
NM_001354618.1:c.-1026A>C NP_001341547.1:n.-1026A>C
NM_001354619.1:c.-1150A>C NP_001341548.1:n.-1150A>C
NM_001354620.1:c.-360A>C NP_001341549.1:n.-360A>C
NM_001354621.1:c.-1119A>C NP_001341550.1:n.-1119A>C
NM_001354622.1:c.-1232A>C NP_001341551.1:n.-1232A>C
NM_001354623.1:c.-1141A>C NP_001341552.1:n.-1141A>C
NM_001354624.1:c.-902A>C NP_001341553.1:n.-902A>C
NM_001354625.1:c.-800A>C NP_001341554.1:n.-800A>C
NM_001354626.1:c.-897A>C NP_001341555.1:n.-897A>C
NM_001354627.1:c.-1129A>C NP_001341556.1:n.-1129A>C
NM_001354628.1:c.-76A>C NP_001341557.1:n.-76A>C
NM_001354629.1:c.-76A>C NP_001341558.1:n.-76A>C
NM_001354630.1:c.-76A>C NP_001341559.1:n.-76A>C