Canonical Allele Identifier: CA542613739

Gene: MLH1

Linked Data

• dbSNP Id: rs1015952737
• gnomAD v2: 3-37034890-C-G
• gnomAD v3: 3-36993399-C-G
• gnomAD v4: 3-36993399-C-G
• MyVariant Identifiers: chr3:g.37034890C>G (hg19) ; chr3:g.36993399C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993399C>G , CM000665.2:g.36993399C>G	GRCh38
NC_000003.11:g.37034890C>G , CM000665.1:g.37034890C>G	GRCh37
NC_000003.10:g.37009894C>G	NCBI36
NG_007109.2:g.5050C>G , LRG_216:g.5050C>G
NG_008418.1:g.4906G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.-149C>G	ENSP00000416476.2:n.-149C>G
ENST00000673673.2:c.-149C>G	ENSP00000500979.2:n.-149C>G
ENST00000231790.6:c.-149C>G	ENSP00000231790.2:n.-149C>G
ENST00000536378.5:c.-781C>G	ENSP00000444286.2:n.-781C>G
NM_000249.3:c.-149C>G , LRG_216t1:c.-149C>G	NP_000240.1:n.-149C>G
NM_001258271.1:c.-149C>G	NP_001245200.1:n.-149C>G
NM_001258273.1:c.-781C>G	NP_001245202.1:n.-781C>G
NM_001167617.2:c.-665C>G	NP_001161089.1:n.-665C>G
NM_001167618.2:c.-1094C>G	NP_001161090.1:n.-1094C>G
NM_001167619.2:c.-1007C>G	NP_001161091.1:n.-1007C>G
NM_001258274.2:c.-1244C>G	NP_001245203.1:n.-1244C>G
NM_001354615.1:c.-775C>G	NP_001341544.1:n.-775C>G
NM_001354616.1:c.-775C>G	NP_001341545.1:n.-775C>G
NM_001354617.1:c.-867C>G	NP_001341546.1:n.-867C>G
NM_001354618.1:c.-1099C>G	NP_001341547.1:n.-1099C>G
NM_001354619.1:c.-1223C>G	NP_001341548.1:n.-1223C>G
NM_001354620.1:c.-433C>G	NP_001341549.1:n.-433C>G
NM_001354621.1:c.-1192C>G	NP_001341550.1:n.-1192C>G
NM_001354622.1:c.-1305C>G	NP_001341551.1:n.-1305C>G
NM_001354623.1:c.-1214C>G	NP_001341552.1:n.-1214C>G
NM_001354624.1:c.-975C>G	NP_001341553.1:n.-975C>G
NM_001354625.1:c.-873C>G	NP_001341554.1:n.-873C>G
NM_001354626.1:c.-970C>G	NP_001341555.1:n.-970C>G
NM_001354627.1:c.-1202C>G	NP_001341556.1:n.-1202C>G
NM_001354628.1:c.-149C>G	NP_001341557.1:n.-149C>G
NM_001354629.1:c.-149C>G	NP_001341558.1:n.-149C>G
NM_001354630.1:c.-149C>G	NP_001341559.1:n.-149C>G