Canonical Allele Identifier: CA2577545007
Gene: MLH1 HGNC NCBI

Linked Data

gnomAD v4: 3-36993459-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993459G>A , CM000665.2:g.36993459G>A GRCh38
NC_000003.11:g.37034950G>A , CM000665.1:g.37034950G>A GRCh37
NC_000003.10:g.37009954G>A NCBI36
NG_007109.2:g.5110G>A , LRG_216:g.5110G>A
NG_008418.1:g.4846C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.-89G>A ENSP00000416476.2:n.-89G>A
ENST00000673673.2:c.-89G>A ENSP00000500979.2:n.-89G>A
ENST00000231790.6:c.-89G>A ENSP00000231790.2:n.-89G>A
ENST00000536378.5:c.-721G>A ENSP00000444286.2:n.-721G>A
NM_000249.3:c.-89G>A , LRG_216t1:c.-89G>A NP_000240.1:n.-89G>A
NM_001258271.1:c.-89G>A NP_001245200.1:n.-89G>A
NM_001258273.1:c.-721G>A NP_001245202.1:n.-721G>A
NM_001167617.2:c.-605G>A NP_001161089.1:n.-605G>A
NM_001167618.2:c.-1034G>A NP_001161090.1:n.-1034G>A
NM_001167619.2:c.-947G>A NP_001161091.1:n.-947G>A
NM_001258274.2:c.-1184G>A NP_001245203.1:n.-1184G>A
NM_001354615.1:c.-715G>A NP_001341544.1:n.-715G>A
NM_001354616.1:c.-715G>A NP_001341545.1:n.-715G>A
NM_001354617.1:c.-807G>A NP_001341546.1:n.-807G>A
NM_001354618.1:c.-1039G>A NP_001341547.1:n.-1039G>A
NM_001354619.1:c.-1163G>A NP_001341548.1:n.-1163G>A
NM_001354620.1:c.-373G>A NP_001341549.1:n.-373G>A
NM_001354621.1:c.-1132G>A NP_001341550.1:n.-1132G>A
NM_001354622.1:c.-1245G>A NP_001341551.1:n.-1245G>A
NM_001354623.1:c.-1154G>A NP_001341552.1:n.-1154G>A
NM_001354624.1:c.-915G>A NP_001341553.1:n.-915G>A
NM_001354625.1:c.-813G>A NP_001341554.1:n.-813G>A
NM_001354626.1:c.-910G>A NP_001341555.1:n.-910G>A
NM_001354627.1:c.-1142G>A NP_001341556.1:n.-1142G>A
NM_001354628.1:c.-89G>A NP_001341557.1:n.-89G>A
NM_001354629.1:c.-89G>A NP_001341558.1:n.-89G>A
NM_001354630.1:c.-89G>A NP_001341559.1:n.-89G>A