Canonical Allele Identifier: CA2665005792
Gene: MLH1 HGNC NCBI

Linked Data

gnomAD v4: 3-36993410-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993410A>T , CM000665.2:g.36993410A>T GRCh38
NC_000003.11:g.37034901A>T , CM000665.1:g.37034901A>T GRCh37
NC_000003.10:g.37009905A>T NCBI36
NG_007109.2:g.5061A>T , LRG_216:g.5061A>T
NG_008418.1:g.4895T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.-138A>T ENSP00000416476.2:n.-138A>T
ENST00000673673.2:c.-138A>T ENSP00000500979.2:n.-138A>T
ENST00000231790.6:c.-138A>T ENSP00000231790.2:n.-138A>T
ENST00000536378.5:c.-770A>T ENSP00000444286.2:n.-770A>T
NM_000249.3:c.-138A>T , LRG_216t1:c.-138A>T NP_000240.1:n.-138A>T
NM_001258271.1:c.-138A>T NP_001245200.1:n.-138A>T
NM_001258273.1:c.-770A>T NP_001245202.1:n.-770A>T
NM_001167617.2:c.-654A>T NP_001161089.1:n.-654A>T
NM_001167618.2:c.-1083A>T NP_001161090.1:n.-1083A>T
NM_001167619.2:c.-996A>T NP_001161091.1:n.-996A>T
NM_001258274.2:c.-1233A>T NP_001245203.1:n.-1233A>T
NM_001354615.1:c.-764A>T NP_001341544.1:n.-764A>T
NM_001354616.1:c.-764A>T NP_001341545.1:n.-764A>T
NM_001354617.1:c.-856A>T NP_001341546.1:n.-856A>T
NM_001354618.1:c.-1088A>T NP_001341547.1:n.-1088A>T
NM_001354619.1:c.-1212A>T NP_001341548.1:n.-1212A>T
NM_001354620.1:c.-422A>T NP_001341549.1:n.-422A>T
NM_001354621.1:c.-1181A>T NP_001341550.1:n.-1181A>T
NM_001354622.1:c.-1294A>T NP_001341551.1:n.-1294A>T
NM_001354623.1:c.-1203A>T NP_001341552.1:n.-1203A>T
NM_001354624.1:c.-964A>T NP_001341553.1:n.-964A>T
NM_001354625.1:c.-862A>T NP_001341554.1:n.-862A>T
NM_001354626.1:c.-959A>T NP_001341555.1:n.-959A>T
NM_001354627.1:c.-1191A>T NP_001341556.1:n.-1191A>T
NM_001354628.1:c.-138A>T NP_001341557.1:n.-138A>T
NM_001354629.1:c.-138A>T NP_001341558.1:n.-138A>T
NM_001354630.1:c.-138A>T NP_001341559.1:n.-138A>T