Canonical Allele Identifier: CA2702479636
Gene: MLH1 HGNC NCBI

Linked Data

dbSNP Id: rs2125692749

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993499G>A , CM000665.2:g.36993499G>A GRCh38
NC_000003.11:g.37034990G>A , CM000665.1:g.37034990G>A GRCh37
NC_000003.10:g.37009994G>A NCBI36
NG_007109.2:g.5150G>A , LRG_216:g.5150G>A
NG_008418.1:g.4806C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000413740.2:c.-49G>A ENSP00000416476.2:n.-49G>A
ENST00000616768.6:c.-49G>A ENSP00000480669.3:n.-49G>A
ENST00000673673.2:c.-49G>A ENSP00000500979.2:n.-49G>A
ENST00000673899.1:c.-49G>A ENSP00000501030.1:n.-49G>A
ENST00000674111.1:c.-49G>A ENSP00000501162.1:n.-49G>A
ENST00000231790.6:c.-49G>A ENSP00000231790.2:n.-49G>A
ENST00000536378.5:c.-681G>A ENSP00000444286.2:n.-681G>A
NM_000249.3:c.-49G>A , LRG_216t1:c.-49G>A NP_000240.1:n.-49G>A
NM_001258271.1:c.-49G>A NP_001245200.1:n.-49G>A
NM_001258273.1:c.-681G>A NP_001245202.1:n.-681G>A
XM_005265161.1:c.-49G>A XP_005265218.1:n.-49G>A
XM_005265164.1:c.-767G>A XP_005265221.1:n.-767G>A
NM_001167617.2:c.-565G>A NP_001161089.1:n.-565G>A
NM_001167618.2:c.-994G>A NP_001161090.1:n.-994G>A
NM_001167619.2:c.-907G>A NP_001161091.1:n.-907G>A
NM_001258274.2:c.-1144G>A NP_001245203.1:n.-1144G>A
NM_001354615.1:c.-675G>A NP_001341544.1:n.-675G>A
NM_001354616.1:c.-675G>A NP_001341545.1:n.-675G>A
NM_001354617.1:c.-767G>A NP_001341546.1:n.-767G>A
NM_001354618.1:c.-999G>A NP_001341547.1:n.-999G>A
NM_001354619.1:c.-1123G>A NP_001341548.1:n.-1123G>A
NM_001354620.1:c.-333G>A NP_001341549.1:n.-333G>A
NM_001354621.1:c.-1092G>A NP_001341550.1:n.-1092G>A
NM_001354622.1:c.-1205G>A NP_001341551.1:n.-1205G>A
NM_001354623.1:c.-1114G>A NP_001341552.1:n.-1114G>A
NM_001354624.1:c.-875G>A NP_001341553.1:n.-875G>A
NM_001354625.1:c.-773G>A NP_001341554.1:n.-773G>A
NM_001354626.1:c.-870G>A NP_001341555.1:n.-870G>A
NM_001354627.1:c.-1102G>A NP_001341556.1:n.-1102G>A
NM_001354628.1:c.-49G>A NP_001341557.1:n.-49G>A
NM_001354629.1:c.-49G>A NP_001341558.1:n.-49G>A
NM_001354630.1:c.-49G>A NP_001341559.1:n.-49G>A
XM_005265161.2:c.-49G>A XP_005265218.1:n.-49G>A