Canonical Allele Identifier: CA1357864738
Gene: MLH1 HGNC NCBI

Linked Data

dbSNP Id: rs587779030
gnomAD v4: 3-36993484-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993484G>A , CM000665.2:g.36993484G>A GRCh38
NC_000003.11:g.37034975G>A , CM000665.1:g.37034975G>A GRCh37
NC_000003.10:g.37009979G>A NCBI36
NG_007109.2:g.5135G>A , LRG_216:g.5135G>A
NG_008418.1:g.4821C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.-64G>A ENSP00000416476.2:n.-64G>A
ENST00000616768.6:c.-64G>A ENSP00000480669.3:n.-64G>A
ENST00000673673.2:c.-64G>A ENSP00000500979.2:n.-64G>A
ENST00000231790.6:c.-64G>A ENSP00000231790.2:n.-64G>A
ENST00000536378.5:c.-696G>A ENSP00000444286.2:n.-696G>A
NM_000249.3:c.-64G>A , LRG_216t1:c.-64G>A NP_000240.1:n.-64G>A
NM_001258271.1:c.-64G>A NP_001245200.1:n.-64G>A
NM_001258273.1:c.-696G>A NP_001245202.1:n.-696G>A
XM_005265161.1:c.-64G>A XP_005265218.1:n.-64G>A
NM_001167617.2:c.-580G>A NP_001161089.1:n.-580G>A
NM_001167618.2:c.-1009G>A NP_001161090.1:n.-1009G>A
NM_001167619.2:c.-922G>A NP_001161091.1:n.-922G>A
NM_001258274.2:c.-1159G>A NP_001245203.1:n.-1159G>A
NM_001354615.1:c.-690G>A NP_001341544.1:n.-690G>A
NM_001354616.1:c.-690G>A NP_001341545.1:n.-690G>A
NM_001354617.1:c.-782G>A NP_001341546.1:n.-782G>A
NM_001354618.1:c.-1014G>A NP_001341547.1:n.-1014G>A
NM_001354619.1:c.-1138G>A NP_001341548.1:n.-1138G>A
NM_001354620.1:c.-348G>A NP_001341549.1:n.-348G>A
NM_001354621.1:c.-1107G>A NP_001341550.1:n.-1107G>A
NM_001354622.1:c.-1220G>A NP_001341551.1:n.-1220G>A
NM_001354623.1:c.-1129G>A NP_001341552.1:n.-1129G>A
NM_001354624.1:c.-890G>A NP_001341553.1:n.-890G>A
NM_001354625.1:c.-788G>A NP_001341554.1:n.-788G>A
NM_001354626.1:c.-885G>A NP_001341555.1:n.-885G>A
NM_001354627.1:c.-1117G>A NP_001341556.1:n.-1117G>A
NM_001354628.1:c.-64G>A NP_001341557.1:n.-64G>A
NM_001354629.1:c.-64G>A NP_001341558.1:n.-64G>A
NM_001354630.1:c.-64G>A NP_001341559.1:n.-64G>A