Canonical Allele Identifier: CA2665005844
Gene: MLH1 HGNC NCBI

Linked Data

gnomAD v4: 3-36993469-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993469A>T , CM000665.2:g.36993469A>T GRCh38
NC_000003.11:g.37034960A>T , CM000665.1:g.37034960A>T GRCh37
NC_000003.10:g.37009964A>T NCBI36
NG_007109.2:g.5120A>T , LRG_216:g.5120A>T
NG_008418.1:g.4836T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000413740.2:c.-79A>T ENSP00000416476.2:n.-79A>T
ENST00000673673.2:c.-79A>T ENSP00000500979.2:n.-79A>T
ENST00000231790.6:c.-79A>T ENSP00000231790.2:n.-79A>T
ENST00000536378.5:c.-711A>T ENSP00000444286.2:n.-711A>T
NM_000249.3:c.-79A>T , LRG_216t1:c.-79A>T NP_000240.1:n.-79A>T
NM_001258271.1:c.-79A>T NP_001245200.1:n.-79A>T
NM_001258273.1:c.-711A>T NP_001245202.1:n.-711A>T
XM_005265161.1:c.-79A>T XP_005265218.1:n.-79A>T
NM_001167617.2:c.-595A>T NP_001161089.1:n.-595A>T
NM_001167618.2:c.-1024A>T NP_001161090.1:n.-1024A>T
NM_001167619.2:c.-937A>T NP_001161091.1:n.-937A>T
NM_001258274.2:c.-1174A>T NP_001245203.1:n.-1174A>T
NM_001354615.1:c.-705A>T NP_001341544.1:n.-705A>T
NM_001354616.1:c.-705A>T NP_001341545.1:n.-705A>T
NM_001354617.1:c.-797A>T NP_001341546.1:n.-797A>T
NM_001354618.1:c.-1029A>T NP_001341547.1:n.-1029A>T
NM_001354619.1:c.-1153A>T NP_001341548.1:n.-1153A>T
NM_001354620.1:c.-363A>T NP_001341549.1:n.-363A>T
NM_001354621.1:c.-1122A>T NP_001341550.1:n.-1122A>T
NM_001354622.1:c.-1235A>T NP_001341551.1:n.-1235A>T
NM_001354623.1:c.-1144A>T NP_001341552.1:n.-1144A>T
NM_001354624.1:c.-905A>T NP_001341553.1:n.-905A>T
NM_001354625.1:c.-803A>T NP_001341554.1:n.-803A>T
NM_001354626.1:c.-900A>T NP_001341555.1:n.-900A>T
NM_001354627.1:c.-1132A>T NP_001341556.1:n.-1132A>T
NM_001354628.1:c.-79A>T NP_001341557.1:n.-79A>T
NM_001354629.1:c.-79A>T NP_001341558.1:n.-79A>T
NM_001354630.1:c.-79A>T NP_001341559.1:n.-79A>T