Canonical Allele Identifier: CA913189199
Gene: MLH1 HGNC NCBI

Linked Data

dbSNP Id: rs1800734
gnomAD v4: 3-36993455-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993455G>C , CM000665.2:g.36993455G>C GRCh38
NC_000003.11:g.37034946G>C , CM000665.1:g.37034946G>C GRCh37
NC_000003.10:g.37009950G>C NCBI36
NG_007109.2:g.5106G>C , LRG_216:g.5106G>C
NG_008418.1:g.4850C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.-93G>C ENSP00000416476.2:n.-93G>C
ENST00000673673.2:c.-93G>C ENSP00000500979.2:n.-93G>C
ENST00000231790.6:c.-93G>C ENSP00000231790.2:n.-93G>C
ENST00000536378.5:c.-725G>C ENSP00000444286.2:n.-725G>C
NM_000249.3:c.-93G>C , LRG_216t1:c.-93G>C NP_000240.1:n.-93G>C
NM_001258271.1:c.-93G>C NP_001245200.1:n.-93G>C
NM_001258273.1:c.-725G>C NP_001245202.1:n.-725G>C
NM_001167617.2:c.-609G>C NP_001161089.1:n.-609G>C
NM_001167618.2:c.-1038G>C NP_001161090.1:n.-1038G>C
NM_001167619.2:c.-951G>C NP_001161091.1:n.-951G>C
NM_001258274.2:c.-1188G>C NP_001245203.1:n.-1188G>C
NM_001354615.1:c.-719G>C NP_001341544.1:n.-719G>C
NM_001354616.1:c.-719G>C NP_001341545.1:n.-719G>C
NM_001354617.1:c.-811G>C NP_001341546.1:n.-811G>C
NM_001354618.1:c.-1043G>C NP_001341547.1:n.-1043G>C
NM_001354619.1:c.-1167G>C NP_001341548.1:n.-1167G>C
NM_001354620.1:c.-377G>C NP_001341549.1:n.-377G>C
NM_001354621.1:c.-1136G>C NP_001341550.1:n.-1136G>C
NM_001354622.1:c.-1249G>C NP_001341551.1:n.-1249G>C
NM_001354623.1:c.-1158G>C NP_001341552.1:n.-1158G>C
NM_001354624.1:c.-919G>C NP_001341553.1:n.-919G>C
NM_001354625.1:c.-817G>C NP_001341554.1:n.-817G>C
NM_001354626.1:c.-914G>C NP_001341555.1:n.-914G>C
NM_001354627.1:c.-1146G>C NP_001341556.1:n.-1146G>C
NM_001354628.1:c.-93G>C NP_001341557.1:n.-93G>C
NM_001354629.1:c.-93G>C NP_001341558.1:n.-93G>C
NM_001354630.1:c.-93G>C NP_001341559.1:n.-93G>C