Canonical Allele Identifier: CA2665005854
Gene: MLH1 HGNC NCBI

Linked Data

gnomAD v4: 3-36993477-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993477G>T , CM000665.2:g.36993477G>T GRCh38
NC_000003.11:g.37034968G>T , CM000665.1:g.37034968G>T GRCh37
NC_000003.10:g.37009972G>T NCBI36
NG_007109.2:g.5128G>T , LRG_216:g.5128G>T
NG_008418.1:g.4828C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000413740.2:c.-71G>T ENSP00000416476.2:n.-71G>T
ENST00000616768.6:c.-71G>T ENSP00000480669.3:n.-71G>T
ENST00000673673.2:c.-71G>T ENSP00000500979.2:n.-71G>T
ENST00000231790.6:c.-71G>T ENSP00000231790.2:n.-71G>T
ENST00000536378.5:c.-703G>T ENSP00000444286.2:n.-703G>T
NM_000249.3:c.-71G>T , LRG_216t1:c.-71G>T NP_000240.1:n.-71G>T
NM_001258271.1:c.-71G>T NP_001245200.1:n.-71G>T
NM_001258273.1:c.-703G>T NP_001245202.1:n.-703G>T
XM_005265161.1:c.-71G>T XP_005265218.1:n.-71G>T
NM_001167617.2:c.-587G>T NP_001161089.1:n.-587G>T
NM_001167618.2:c.-1016G>T NP_001161090.1:n.-1016G>T
NM_001167619.2:c.-929G>T NP_001161091.1:n.-929G>T
NM_001258274.2:c.-1166G>T NP_001245203.1:n.-1166G>T
NM_001354615.1:c.-697G>T NP_001341544.1:n.-697G>T
NM_001354616.1:c.-697G>T NP_001341545.1:n.-697G>T
NM_001354617.1:c.-789G>T NP_001341546.1:n.-789G>T
NM_001354618.1:c.-1021G>T NP_001341547.1:n.-1021G>T
NM_001354619.1:c.-1145G>T NP_001341548.1:n.-1145G>T
NM_001354620.1:c.-355G>T NP_001341549.1:n.-355G>T
NM_001354621.1:c.-1114G>T NP_001341550.1:n.-1114G>T
NM_001354622.1:c.-1227G>T NP_001341551.1:n.-1227G>T
NM_001354623.1:c.-1136G>T NP_001341552.1:n.-1136G>T
NM_001354624.1:c.-897G>T NP_001341553.1:n.-897G>T
NM_001354625.1:c.-795G>T NP_001341554.1:n.-795G>T
NM_001354626.1:c.-892G>T NP_001341555.1:n.-892G>T
NM_001354627.1:c.-1124G>T NP_001341556.1:n.-1124G>T
NM_001354628.1:c.-71G>T NP_001341557.1:n.-71G>T
NM_001354629.1:c.-71G>T NP_001341558.1:n.-71G>T
NM_001354630.1:c.-71G>T NP_001341559.1:n.-71G>T