Canonical Allele Identifier: CA2665005860
Gene: MLH1 HGNC NCBI

Linked Data

gnomAD v4: 3-36993491-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993491G>A , CM000665.2:g.36993491G>A GRCh38
NC_000003.11:g.37034982G>A , CM000665.1:g.37034982G>A GRCh37
NC_000003.10:g.37009986G>A NCBI36
NG_007109.2:g.5142G>A , LRG_216:g.5142G>A
NG_008418.1:g.4814C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000413740.2:c.-57G>A ENSP00000416476.2:n.-57G>A
ENST00000616768.6:c.-57G>A ENSP00000480669.3:n.-57G>A
ENST00000673673.2:c.-57G>A ENSP00000500979.2:n.-57G>A
ENST00000673899.1:c.-57G>A ENSP00000501030.1:n.-57G>A
ENST00000231790.6:c.-57G>A ENSP00000231790.2:n.-57G>A
ENST00000536378.5:c.-689G>A ENSP00000444286.2:n.-689G>A
NM_000249.3:c.-57G>A , LRG_216t1:c.-57G>A NP_000240.1:n.-57G>A
NM_001258271.1:c.-57G>A NP_001245200.1:n.-57G>A
NM_001258273.1:c.-689G>A NP_001245202.1:n.-689G>A
XM_005265161.1:c.-57G>A XP_005265218.1:n.-57G>A
NM_001167617.2:c.-573G>A NP_001161089.1:n.-573G>A
NM_001167618.2:c.-1002G>A NP_001161090.1:n.-1002G>A
NM_001167619.2:c.-915G>A NP_001161091.1:n.-915G>A
NM_001258274.2:c.-1152G>A NP_001245203.1:n.-1152G>A
NM_001354615.1:c.-683G>A NP_001341544.1:n.-683G>A
NM_001354616.1:c.-683G>A NP_001341545.1:n.-683G>A
NM_001354617.1:c.-775G>A NP_001341546.1:n.-775G>A
NM_001354618.1:c.-1007G>A NP_001341547.1:n.-1007G>A
NM_001354619.1:c.-1131G>A NP_001341548.1:n.-1131G>A
NM_001354620.1:c.-341G>A NP_001341549.1:n.-341G>A
NM_001354621.1:c.-1100G>A NP_001341550.1:n.-1100G>A
NM_001354622.1:c.-1213G>A NP_001341551.1:n.-1213G>A
NM_001354623.1:c.-1122G>A NP_001341552.1:n.-1122G>A
NM_001354624.1:c.-883G>A NP_001341553.1:n.-883G>A
NM_001354625.1:c.-781G>A NP_001341554.1:n.-781G>A
NM_001354626.1:c.-878G>A NP_001341555.1:n.-878G>A
NM_001354627.1:c.-1110G>A NP_001341556.1:n.-1110G>A
NM_001354628.1:c.-57G>A NP_001341557.1:n.-57G>A
NM_001354629.1:c.-57G>A NP_001341558.1:n.-57G>A
NM_001354630.1:c.-57G>A NP_001341559.1:n.-57G>A
XM_005265161.2:c.-57G>A XP_005265218.1:n.-57G>A