Canonical Allele Identifier: CA10618534

Gene: MLH1

Linked Data

• ClinVar Variation Id: 344904
• ClinVar RCV Id: RCV000342636
• dbSNP Id: rs558051715
• gnomAD v3: 3-36993462-G-A
• gnomAD v4: 3-36993462-G-A
• MyVariant Identifiers: chr3:g.37034953G>A (hg19) ; chr3:g.36993462G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993462G>A , CM000665.2:g.36993462G>A	GRCh38
NC_000003.11:g.37034953G>A , CM000665.1:g.37034953G>A	GRCh37
NC_000003.10:g.37009957G>A	NCBI36
NG_007109.2:g.5113G>A , LRG_216:g.5113G>A
NG_008418.1:g.4843C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.-86G>A	ENSP00000416476.2:n.-86G>A
ENST00000673673.2:c.-86G>A	ENSP00000500979.2:n.-86G>A
ENST00000231790.6:c.-86G>A	ENSP00000231790.2:n.-86G>A
ENST00000536378.5:c.-718G>A	ENSP00000444286.2:n.-718G>A
NM_000249.3:c.-86G>A , LRG_216t1:c.-86G>A	NP_000240.1:n.-86G>A
NM_001258271.1:c.-86G>A	NP_001245200.1:n.-86G>A
NM_001258273.1:c.-718G>A	NP_001245202.1:n.-718G>A
XM_005265161.1:c.-86G>A	XP_005265218.1:n.-86G>A
NM_001167617.2:c.-602G>A	NP_001161089.1:n.-602G>A
NM_001167618.2:c.-1031G>A	NP_001161090.1:n.-1031G>A
NM_001167619.2:c.-944G>A	NP_001161091.1:n.-944G>A
NM_001258274.2:c.-1181G>A	NP_001245203.1:n.-1181G>A
NM_001354615.1:c.-712G>A	NP_001341544.1:n.-712G>A
NM_001354616.1:c.-712G>A	NP_001341545.1:n.-712G>A
NM_001354617.1:c.-804G>A	NP_001341546.1:n.-804G>A
NM_001354618.1:c.-1036G>A	NP_001341547.1:n.-1036G>A
NM_001354619.1:c.-1160G>A	NP_001341548.1:n.-1160G>A
NM_001354620.1:c.-370G>A	NP_001341549.1:n.-370G>A
NM_001354621.1:c.-1129G>A	NP_001341550.1:n.-1129G>A
NM_001354622.1:c.-1242G>A	NP_001341551.1:n.-1242G>A
NM_001354623.1:c.-1151G>A	NP_001341552.1:n.-1151G>A
NM_001354624.1:c.-912G>A	NP_001341553.1:n.-912G>A
NM_001354625.1:c.-810G>A	NP_001341554.1:n.-810G>A
NM_001354626.1:c.-907G>A	NP_001341555.1:n.-907G>A
NM_001354627.1:c.-1139G>A	NP_001341556.1:n.-1139G>A
NM_001354628.1:c.-86G>A	NP_001341557.1:n.-86G>A
NM_001354629.1:c.-86G>A	NP_001341558.1:n.-86G>A
NM_001354630.1:c.-86G>A	NP_001341559.1:n.-86G>A