Canonical Allele Identifier: CA72786278

Gene: MLH1

Linked Data

• dbSNP Id: rs753503730
• gnomAD v3: 3-36993504-T-C
• gnomAD v4: 3-36993504-T-C
• MyVariant Identifiers: chr3:g.37034995T>C (hg19) ; chr3:g.36993504T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993504T>C , CM000665.2:g.36993504T>C	GRCh38
NC_000003.11:g.37034995T>C , CM000665.1:g.37034995T>C	GRCh37
NC_000003.10:g.37009999T>C	NCBI36
NG_007109.2:g.5155T>C , LRG_216:g.5155T>C
NG_008418.1:g.4801A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000413740.2:c.-44T>C	ENSP00000416476.2:n.-44T>C
ENST00000616768.6:c.-44T>C	ENSP00000480669.3:n.-44T>C
ENST00000673673.2:c.-44T>C	ENSP00000500979.2:n.-44T>C
ENST00000673899.1:c.-44T>C	ENSP00000501030.1:n.-44T>C
ENST00000674111.1:c.-44T>C	ENSP00000501162.1:n.-44T>C
ENST00000231790.6:c.-44T>C	ENSP00000231790.2:n.-44T>C
ENST00000536378.5:c.-676T>C	ENSP00000444286.2:n.-676T>C
NM_000249.3:c.-44T>C , LRG_216t1:c.-44T>C	NP_000240.1:n.-44T>C
NM_001258271.1:c.-44T>C	NP_001245200.1:n.-44T>C
NM_001258273.1:c.-676T>C	NP_001245202.1:n.-676T>C
XM_005265161.1:c.-44T>C	XP_005265218.1:n.-44T>C
XM_005265164.1:c.-762T>C	XP_005265221.1:n.-762T>C
NM_001167617.2:c.-560T>C	NP_001161089.1:n.-560T>C
NM_001167618.2:c.-989T>C	NP_001161090.1:n.-989T>C
NM_001167619.2:c.-902T>C	NP_001161091.1:n.-902T>C
NM_001258274.2:c.-1139T>C	NP_001245203.1:n.-1139T>C
NM_001354615.1:c.-670T>C	NP_001341544.1:n.-670T>C
NM_001354616.1:c.-670T>C	NP_001341545.1:n.-670T>C
NM_001354617.1:c.-762T>C	NP_001341546.1:n.-762T>C
NM_001354618.1:c.-994T>C	NP_001341547.1:n.-994T>C
NM_001354619.1:c.-1118T>C	NP_001341548.1:n.-1118T>C
NM_001354620.1:c.-328T>C	NP_001341549.1:n.-328T>C
NM_001354621.1:c.-1087T>C	NP_001341550.1:n.-1087T>C
NM_001354622.1:c.-1200T>C	NP_001341551.1:n.-1200T>C
NM_001354623.1:c.-1109T>C	NP_001341552.1:n.-1109T>C
NM_001354624.1:c.-870T>C	NP_001341553.1:n.-870T>C
NM_001354625.1:c.-768T>C	NP_001341554.1:n.-768T>C
NM_001354626.1:c.-865T>C	NP_001341555.1:n.-865T>C
NM_001354627.1:c.-1097T>C	NP_001341556.1:n.-1097T>C
NM_001354628.1:c.-44T>C	NP_001341557.1:n.-44T>C
NM_001354629.1:c.-44T>C	NP_001341558.1:n.-44T>C
NM_001354630.1:c.-44T>C	NP_001341559.1:n.-44T>C
XM_005265161.2:c.-44T>C	XP_005265218.1:n.-44T>C