Canonical Allele Identifier: CA2665005845

Gene: MLH1

Linked Data

• gnomAD v4: 3-36993470-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993470G>C , CM000665.2:g.36993470G>C	GRCh38
NC_000003.11:g.37034961G>C , CM000665.1:g.37034961G>C	GRCh37
NC_000003.10:g.37009965G>C	NCBI36
NG_007109.2:g.5121G>C , LRG_216:g.5121G>C
NG_008418.1:g.4835C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000413740.2:c.-78G>C	ENSP00000416476.2:n.-78G>C
ENST00000673673.2:c.-78G>C	ENSP00000500979.2:n.-78G>C
ENST00000231790.6:c.-78G>C	ENSP00000231790.2:n.-78G>C
ENST00000536378.5:c.-710G>C	ENSP00000444286.2:n.-710G>C
NM_000249.3:c.-78G>C , LRG_216t1:c.-78G>C	NP_000240.1:n.-78G>C
NM_001258271.1:c.-78G>C	NP_001245200.1:n.-78G>C
NM_001258273.1:c.-710G>C	NP_001245202.1:n.-710G>C
XM_005265161.1:c.-78G>C	XP_005265218.1:n.-78G>C
NM_001167617.2:c.-594G>C	NP_001161089.1:n.-594G>C
NM_001167618.2:c.-1023G>C	NP_001161090.1:n.-1023G>C
NM_001167619.2:c.-936G>C	NP_001161091.1:n.-936G>C
NM_001258274.2:c.-1173G>C	NP_001245203.1:n.-1173G>C
NM_001354615.1:c.-704G>C	NP_001341544.1:n.-704G>C
NM_001354616.1:c.-704G>C	NP_001341545.1:n.-704G>C
NM_001354617.1:c.-796G>C	NP_001341546.1:n.-796G>C
NM_001354618.1:c.-1028G>C	NP_001341547.1:n.-1028G>C
NM_001354619.1:c.-1152G>C	NP_001341548.1:n.-1152G>C
NM_001354620.1:c.-362G>C	NP_001341549.1:n.-362G>C
NM_001354621.1:c.-1121G>C	NP_001341550.1:n.-1121G>C
NM_001354622.1:c.-1234G>C	NP_001341551.1:n.-1234G>C
NM_001354623.1:c.-1143G>C	NP_001341552.1:n.-1143G>C
NM_001354624.1:c.-904G>C	NP_001341553.1:n.-904G>C
NM_001354625.1:c.-802G>C	NP_001341554.1:n.-802G>C
NM_001354626.1:c.-899G>C	NP_001341555.1:n.-899G>C
NM_001354627.1:c.-1131G>C	NP_001341556.1:n.-1131G>C
NM_001354628.1:c.-78G>C	NP_001341557.1:n.-78G>C
NM_001354629.1:c.-78G>C	NP_001341558.1:n.-78G>C
NM_001354630.1:c.-78G>C	NP_001341559.1:n.-78G>C