Canonical Allele Identifier: CA2577545010

Gene: MLH1

Linked Data

• dbSNP Id: rs2125692589
• gnomAD v4: 3-36993468-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993468G>A , CM000665.2:g.36993468G>A	GRCh38
NC_000003.11:g.37034959G>A , CM000665.1:g.37034959G>A	GRCh37
NC_000003.10:g.37009963G>A	NCBI36
NG_007109.2:g.5119G>A , LRG_216:g.5119G>A
NG_008418.1:g.4837C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.-80G>A	ENSP00000416476.2:n.-80G>A
ENST00000673673.2:c.-80G>A	ENSP00000500979.2:n.-80G>A
ENST00000231790.6:c.-80G>A	ENSP00000231790.2:n.-80G>A
ENST00000536378.5:c.-712G>A	ENSP00000444286.2:n.-712G>A
NM_000249.3:c.-80G>A , LRG_216t1:c.-80G>A	NP_000240.1:n.-80G>A
NM_001258271.1:c.-80G>A	NP_001245200.1:n.-80G>A
NM_001258273.1:c.-712G>A	NP_001245202.1:n.-712G>A
XM_005265161.1:c.-80G>A	XP_005265218.1:n.-80G>A
NM_001167617.2:c.-596G>A	NP_001161089.1:n.-596G>A
NM_001167618.2:c.-1025G>A	NP_001161090.1:n.-1025G>A
NM_001167619.2:c.-938G>A	NP_001161091.1:n.-938G>A
NM_001258274.2:c.-1175G>A	NP_001245203.1:n.-1175G>A
NM_001354615.1:c.-706G>A	NP_001341544.1:n.-706G>A
NM_001354616.1:c.-706G>A	NP_001341545.1:n.-706G>A
NM_001354617.1:c.-798G>A	NP_001341546.1:n.-798G>A
NM_001354618.1:c.-1030G>A	NP_001341547.1:n.-1030G>A
NM_001354619.1:c.-1154G>A	NP_001341548.1:n.-1154G>A
NM_001354620.1:c.-364G>A	NP_001341549.1:n.-364G>A
NM_001354621.1:c.-1123G>A	NP_001341550.1:n.-1123G>A
NM_001354622.1:c.-1236G>A	NP_001341551.1:n.-1236G>A
NM_001354623.1:c.-1145G>A	NP_001341552.1:n.-1145G>A
NM_001354624.1:c.-906G>A	NP_001341553.1:n.-906G>A
NM_001354625.1:c.-804G>A	NP_001341554.1:n.-804G>A
NM_001354626.1:c.-901G>A	NP_001341555.1:n.-901G>A
NM_001354627.1:c.-1133G>A	NP_001341556.1:n.-1133G>A
NM_001354628.1:c.-80G>A	NP_001341557.1:n.-80G>A
NM_001354629.1:c.-80G>A	NP_001341558.1:n.-80G>A
NM_001354630.1:c.-80G>A	NP_001341559.1:n.-80G>A