Canonical Allele Identifier: CA906755435

Gene: MLH1

Linked Data

• dbSNP Id: rs1222403412
• gnomAD v4: 3-36993356-A-C
• MyVariant Identifiers: chr3:g.37034847A>C (hg19) ; chr3:g.36993356A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993356A>C , CM000665.2:g.36993356A>C	GRCh38
NC_000003.11:g.37034847A>C , CM000665.1:g.37034847A>C	GRCh37
NC_000003.10:g.37009851A>C	NCBI36
NG_007109.2:g.5007A>C , LRG_216:g.5007A>C
NG_008418.1:g.4949T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673673.2:c.-192A>C	ENSP00000500979.2:n.-192A>C
ENST00000231790.6:c.-192A>C	ENSP00000231790.2:n.-192A>C
ENST00000536378.5:c.-824A>C	ENSP00000444286.2:n.-824A>C
NM_000249.3:c.-192A>C , LRG_216t1:c.-192A>C	NP_000240.1:n.-192A>C
NM_001258271.1:c.-192A>C	NP_001245200.1:n.-192A>C
NM_001258273.1:c.-824A>C	NP_001245202.1:n.-824A>C
NM_001167617.2:c.-708A>C	NP_001161089.1:n.-708A>C
NM_001167618.2:c.-1137A>C	NP_001161090.1:n.-1137A>C
NM_001167619.2:c.-1050A>C	NP_001161091.1:n.-1050A>C
NM_001258274.2:c.-1287A>C	NP_001245203.1:n.-1287A>C
NM_001354615.1:c.-818A>C	NP_001341544.1:n.-818A>C
NM_001354616.1:c.-818A>C	NP_001341545.1:n.-818A>C
NM_001354617.1:c.-910A>C	NP_001341546.1:n.-910A>C
NM_001354618.1:c.-1142A>C	NP_001341547.1:n.-1142A>C
NM_001354619.1:c.-1266A>C	NP_001341548.1:n.-1266A>C
NM_001354620.1:c.-476A>C	NP_001341549.1:n.-476A>C
NM_001354621.1:c.-1235A>C	NP_001341550.1:n.-1235A>C
NM_001354622.1:c.-1348A>C	NP_001341551.1:n.-1348A>C
NM_001354623.1:c.-1257A>C	NP_001341552.1:n.-1257A>C
NM_001354624.1:c.-1018A>C	NP_001341553.1:n.-1018A>C
NM_001354625.1:c.-916A>C	NP_001341554.1:n.-916A>C
NM_001354626.1:c.-1013A>C	NP_001341555.1:n.-1013A>C
NM_001354627.1:c.-1245A>C	NP_001341556.1:n.-1245A>C
NM_001354628.1:c.-192A>C	NP_001341557.1:n.-192A>C
NM_001354629.1:c.-192A>C	NP_001341558.1:n.-192A>C
NM_001354630.1:c.-192A>C	NP_001341559.1:n.-192A>C