Canonical Allele Identifier: CA2665005838
Gene: MLH1 HGNC NCBI

Linked Data

gnomAD v4: 3-36993460-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993460A>G , CM000665.2:g.36993460A>G GRCh38
NC_000003.11:g.37034951A>G , CM000665.1:g.37034951A>G GRCh37
NC_000003.10:g.37009955A>G NCBI36
NG_007109.2:g.5111A>G , LRG_216:g.5111A>G
NG_008418.1:g.4845T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.-88A>G ENSP00000416476.2:n.-88A>G
ENST00000673673.2:c.-88A>G ENSP00000500979.2:n.-88A>G
ENST00000231790.6:c.-88A>G ENSP00000231790.2:n.-88A>G
ENST00000536378.5:c.-720A>G ENSP00000444286.2:n.-720A>G
NM_000249.3:c.-88A>G , LRG_216t1:c.-88A>G NP_000240.1:n.-88A>G
NM_001258271.1:c.-88A>G NP_001245200.1:n.-88A>G
NM_001258273.1:c.-720A>G NP_001245202.1:n.-720A>G
XM_005265161.1:c.-88A>G XP_005265218.1:n.-88A>G
NM_001167617.2:c.-604A>G NP_001161089.1:n.-604A>G
NM_001167618.2:c.-1033A>G NP_001161090.1:n.-1033A>G
NM_001167619.2:c.-946A>G NP_001161091.1:n.-946A>G
NM_001258274.2:c.-1183A>G NP_001245203.1:n.-1183A>G
NM_001354615.1:c.-714A>G NP_001341544.1:n.-714A>G
NM_001354616.1:c.-714A>G NP_001341545.1:n.-714A>G
NM_001354617.1:c.-806A>G NP_001341546.1:n.-806A>G
NM_001354618.1:c.-1038A>G NP_001341547.1:n.-1038A>G
NM_001354619.1:c.-1162A>G NP_001341548.1:n.-1162A>G
NM_001354620.1:c.-372A>G NP_001341549.1:n.-372A>G
NM_001354621.1:c.-1131A>G NP_001341550.1:n.-1131A>G
NM_001354622.1:c.-1244A>G NP_001341551.1:n.-1244A>G
NM_001354623.1:c.-1153A>G NP_001341552.1:n.-1153A>G
NM_001354624.1:c.-914A>G NP_001341553.1:n.-914A>G
NM_001354625.1:c.-812A>G NP_001341554.1:n.-812A>G
NM_001354626.1:c.-909A>G NP_001341555.1:n.-909A>G
NM_001354627.1:c.-1141A>G NP_001341556.1:n.-1141A>G
NM_001354628.1:c.-88A>G NP_001341557.1:n.-88A>G
NM_001354629.1:c.-88A>G NP_001341558.1:n.-88A>G
NM_001354630.1:c.-88A>G NP_001341559.1:n.-88A>G