Canonical Allele Identifier: CA906755589
Gene: MLH1 HGNC NCBI

Linked Data

dbSNP Id: rs1170570478
gnomAD v4: 3-36993489-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993489T>C , CM000665.2:g.36993489T>C GRCh38
NC_000003.11:g.37034980T>C , CM000665.1:g.37034980T>C GRCh37
NC_000003.10:g.37009984T>C NCBI36
NG_007109.2:g.5140T>C , LRG_216:g.5140T>C
NG_008418.1:g.4816A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.-59T>C ENSP00000416476.2:n.-59T>C
ENST00000616768.6:c.-59T>C ENSP00000480669.3:n.-59T>C
ENST00000673673.2:c.-59T>C ENSP00000500979.2:n.-59T>C
ENST00000673899.1:c.-59T>C ENSP00000501030.1:n.-59T>C
ENST00000231790.6:c.-59T>C ENSP00000231790.2:n.-59T>C
ENST00000536378.5:c.-691T>C ENSP00000444286.2:n.-691T>C
NM_000249.3:c.-59T>C , LRG_216t1:c.-59T>C NP_000240.1:n.-59T>C
NM_001258271.1:c.-59T>C NP_001245200.1:n.-59T>C
NM_001258273.1:c.-691T>C NP_001245202.1:n.-691T>C
XM_005265161.1:c.-59T>C XP_005265218.1:n.-59T>C
NM_001167617.2:c.-575T>C NP_001161089.1:n.-575T>C
NM_001167618.2:c.-1004T>C NP_001161090.1:n.-1004T>C
NM_001167619.2:c.-917T>C NP_001161091.1:n.-917T>C
NM_001258274.2:c.-1154T>C NP_001245203.1:n.-1154T>C
NM_001354615.1:c.-685T>C NP_001341544.1:n.-685T>C
NM_001354616.1:c.-685T>C NP_001341545.1:n.-685T>C
NM_001354617.1:c.-777T>C NP_001341546.1:n.-777T>C
NM_001354618.1:c.-1009T>C NP_001341547.1:n.-1009T>C
NM_001354619.1:c.-1133T>C NP_001341548.1:n.-1133T>C
NM_001354620.1:c.-343T>C NP_001341549.1:n.-343T>C
NM_001354621.1:c.-1102T>C NP_001341550.1:n.-1102T>C
NM_001354622.1:c.-1215T>C NP_001341551.1:n.-1215T>C
NM_001354623.1:c.-1124T>C NP_001341552.1:n.-1124T>C
NM_001354624.1:c.-885T>C NP_001341553.1:n.-885T>C
NM_001354625.1:c.-783T>C NP_001341554.1:n.-783T>C
NM_001354626.1:c.-880T>C NP_001341555.1:n.-880T>C
NM_001354627.1:c.-1112T>C NP_001341556.1:n.-1112T>C
NM_001354628.1:c.-59T>C NP_001341557.1:n.-59T>C
NM_001354629.1:c.-59T>C NP_001341558.1:n.-59T>C
NM_001354630.1:c.-59T>C NP_001341559.1:n.-59T>C
XM_005265161.2:c.-59T>C XP_005265218.1:n.-59T>C