Canonical Allele Identifier: CA2665005840
Gene: MLH1 HGNC NCBI

Linked Data

gnomAD v4: 3-36993465-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993465C>A , CM000665.2:g.36993465C>A GRCh38
NC_000003.11:g.37034956C>A , CM000665.1:g.37034956C>A GRCh37
NC_000003.10:g.37009960C>A NCBI36
NG_007109.2:g.5116C>A , LRG_216:g.5116C>A
NG_008418.1:g.4840G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.-83C>A ENSP00000416476.2:n.-83C>A
ENST00000673673.2:c.-83C>A ENSP00000500979.2:n.-83C>A
ENST00000231790.6:c.-83C>A ENSP00000231790.2:n.-83C>A
ENST00000536378.5:c.-715C>A ENSP00000444286.2:n.-715C>A
NM_000249.3:c.-83C>A , LRG_216t1:c.-83C>A NP_000240.1:n.-83C>A
NM_001258271.1:c.-83C>A NP_001245200.1:n.-83C>A
NM_001258273.1:c.-715C>A NP_001245202.1:n.-715C>A
XM_005265161.1:c.-83C>A XP_005265218.1:n.-83C>A
NM_001167617.2:c.-599C>A NP_001161089.1:n.-599C>A
NM_001167618.2:c.-1028C>A NP_001161090.1:n.-1028C>A
NM_001167619.2:c.-941C>A NP_001161091.1:n.-941C>A
NM_001258274.2:c.-1178C>A NP_001245203.1:n.-1178C>A
NM_001354615.1:c.-709C>A NP_001341544.1:n.-709C>A
NM_001354616.1:c.-709C>A NP_001341545.1:n.-709C>A
NM_001354617.1:c.-801C>A NP_001341546.1:n.-801C>A
NM_001354618.1:c.-1033C>A NP_001341547.1:n.-1033C>A
NM_001354619.1:c.-1157C>A NP_001341548.1:n.-1157C>A
NM_001354620.1:c.-367C>A NP_001341549.1:n.-367C>A
NM_001354621.1:c.-1126C>A NP_001341550.1:n.-1126C>A
NM_001354622.1:c.-1239C>A NP_001341551.1:n.-1239C>A
NM_001354623.1:c.-1148C>A NP_001341552.1:n.-1148C>A
NM_001354624.1:c.-909C>A NP_001341553.1:n.-909C>A
NM_001354625.1:c.-807C>A NP_001341554.1:n.-807C>A
NM_001354626.1:c.-904C>A NP_001341555.1:n.-904C>A
NM_001354627.1:c.-1136C>A NP_001341556.1:n.-1136C>A
NM_001354628.1:c.-83C>A NP_001341557.1:n.-83C>A
NM_001354629.1:c.-83C>A NP_001341558.1:n.-83C>A
NM_001354630.1:c.-83C>A NP_001341559.1:n.-83C>A