Canonical Allele Identifier: CA2665005862

Gene: MLH1

Linked Data

• gnomAD v4: 3-36993500-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993500C>G , CM000665.2:g.36993500C>G	GRCh38
NC_000003.11:g.37034991C>G , CM000665.1:g.37034991C>G	GRCh37
NC_000003.10:g.37009995C>G	NCBI36
NG_007109.2:g.5151C>G , LRG_216:g.5151C>G
NG_008418.1:g.4805G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000413740.2:c.-48C>G	ENSP00000416476.2:n.-48C>G
ENST00000616768.6:c.-48C>G	ENSP00000480669.3:n.-48C>G
ENST00000673673.2:c.-48C>G	ENSP00000500979.2:n.-48C>G
ENST00000673899.1:c.-48C>G	ENSP00000501030.1:n.-48C>G
ENST00000674111.1:c.-48C>G	ENSP00000501162.1:n.-48C>G
ENST00000231790.6:c.-48C>G	ENSP00000231790.2:n.-48C>G
ENST00000536378.5:c.-680C>G	ENSP00000444286.2:n.-680C>G
NM_000249.3:c.-48C>G , LRG_216t1:c.-48C>G	NP_000240.1:n.-48C>G
NM_001258271.1:c.-48C>G	NP_001245200.1:n.-48C>G
NM_001258273.1:c.-680C>G	NP_001245202.1:n.-680C>G
XM_005265161.1:c.-48C>G	XP_005265218.1:n.-48C>G
XM_005265164.1:c.-766C>G	XP_005265221.1:n.-766C>G
NM_001167617.2:c.-564C>G	NP_001161089.1:n.-564C>G
NM_001167618.2:c.-993C>G	NP_001161090.1:n.-993C>G
NM_001167619.2:c.-906C>G	NP_001161091.1:n.-906C>G
NM_001258274.2:c.-1143C>G	NP_001245203.1:n.-1143C>G
NM_001354615.1:c.-674C>G	NP_001341544.1:n.-674C>G
NM_001354616.1:c.-674C>G	NP_001341545.1:n.-674C>G
NM_001354617.1:c.-766C>G	NP_001341546.1:n.-766C>G
NM_001354618.1:c.-998C>G	NP_001341547.1:n.-998C>G
NM_001354619.1:c.-1122C>G	NP_001341548.1:n.-1122C>G
NM_001354620.1:c.-332C>G	NP_001341549.1:n.-332C>G
NM_001354621.1:c.-1091C>G	NP_001341550.1:n.-1091C>G
NM_001354622.1:c.-1204C>G	NP_001341551.1:n.-1204C>G
NM_001354623.1:c.-1113C>G	NP_001341552.1:n.-1113C>G
NM_001354624.1:c.-874C>G	NP_001341553.1:n.-874C>G
NM_001354625.1:c.-772C>G	NP_001341554.1:n.-772C>G
NM_001354626.1:c.-869C>G	NP_001341555.1:n.-869C>G
NM_001354627.1:c.-1101C>G	NP_001341556.1:n.-1101C>G
NM_001354628.1:c.-48C>G	NP_001341557.1:n.-48C>G
NM_001354629.1:c.-48C>G	NP_001341558.1:n.-48C>G
NM_001354630.1:c.-48C>G	NP_001341559.1:n.-48C>G
XM_005265161.2:c.-48C>G	XP_005265218.1:n.-48C>G