Canonical Allele Identifier: CA542613766

Gene: MLH1

Linked Data

• ClinVar Variation Id: 2904530
• ClinVar RCV Id: RCV003760390
• dbSNP Id: rs1306362496
• gnomAD v2: 3-37034976-G-A
• gnomAD v3: 3-36993485-G-A
• gnomAD v4: 3-36993485-G-A
• MyVariant Identifiers: chr3:g.37034976G>A (hg19) ; chr3:g.36993485G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993485G>A , CM000665.2:g.36993485G>A	GRCh38
NC_000003.11:g.37034976G>A , CM000665.1:g.37034976G>A	GRCh37
NC_000003.10:g.37009980G>A	NCBI36
NG_007109.2:g.5136G>A , LRG_216:g.5136G>A
NG_008418.1:g.4820C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000413740.2:c.-63G>A	ENSP00000416476.2:n.-63G>A
ENST00000616768.6:c.-63G>A	ENSP00000480669.3:n.-63G>A
ENST00000673673.2:c.-63G>A	ENSP00000500979.2:n.-63G>A
ENST00000231790.6:c.-63G>A	ENSP00000231790.2:n.-63G>A
ENST00000536378.5:c.-695G>A	ENSP00000444286.2:n.-695G>A
NM_000249.3:c.-63G>A , LRG_216t1:c.-63G>A	NP_000240.1:n.-63G>A
NM_001258271.1:c.-63G>A	NP_001245200.1:n.-63G>A
NM_001258273.1:c.-695G>A	NP_001245202.1:n.-695G>A
XM_005265161.1:c.-63G>A	XP_005265218.1:n.-63G>A
NM_001167617.2:c.-579G>A	NP_001161089.1:n.-579G>A
NM_001167618.2:c.-1008G>A	NP_001161090.1:n.-1008G>A
NM_001167619.2:c.-921G>A	NP_001161091.1:n.-921G>A
NM_001258274.2:c.-1158G>A	NP_001245203.1:n.-1158G>A
NM_001354615.1:c.-689G>A	NP_001341544.1:n.-689G>A
NM_001354616.1:c.-689G>A	NP_001341545.1:n.-689G>A
NM_001354617.1:c.-781G>A	NP_001341546.1:n.-781G>A
NM_001354618.1:c.-1013G>A	NP_001341547.1:n.-1013G>A
NM_001354619.1:c.-1137G>A	NP_001341548.1:n.-1137G>A
NM_001354620.1:c.-347G>A	NP_001341549.1:n.-347G>A
NM_001354621.1:c.-1106G>A	NP_001341550.1:n.-1106G>A
NM_001354622.1:c.-1219G>A	NP_001341551.1:n.-1219G>A
NM_001354623.1:c.-1128G>A	NP_001341552.1:n.-1128G>A
NM_001354624.1:c.-889G>A	NP_001341553.1:n.-889G>A
NM_001354625.1:c.-787G>A	NP_001341554.1:n.-787G>A
NM_001354626.1:c.-884G>A	NP_001341555.1:n.-884G>A
NM_001354627.1:c.-1116G>A	NP_001341556.1:n.-1116G>A
NM_001354628.1:c.-63G>A	NP_001341557.1:n.-63G>A
NM_001354629.1:c.-63G>A	NP_001341558.1:n.-63G>A
NM_001354630.1:c.-63G>A	NP_001341559.1:n.-63G>A