Canonical Allele Identifier: CA010862

Gene: MLH1

Linked Data

• dbSNP Id: rs587779020
• gnomAD v4: 3-36993495-G-T
• MyVariant Identifiers: chr3:g.37034986G>T (hg19) ; chr3:g.36993495G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993495G>T , CM000665.2:g.36993495G>T	GRCh38
NC_000003.11:g.37034986G>T , CM000665.1:g.37034986G>T	GRCh37
NC_000003.10:g.37009990G>T	NCBI36
NG_007109.2:g.5146G>T , LRG_216:g.5146G>T
NG_008418.1:g.4810C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000413740.2:c.-53G>T	ENSP00000416476.2:n.-53G>T
ENST00000616768.6:c.-53G>T	ENSP00000480669.3:n.-53G>T
ENST00000673673.2:c.-53G>T	ENSP00000500979.2:n.-53G>T
ENST00000673899.1:c.-53G>T	ENSP00000501030.1:n.-53G>T
ENST00000674111.1:c.-53G>T	ENSP00000501162.1:n.-53G>T
ENST00000231790.6:c.-53G>T	ENSP00000231790.2:n.-53G>T
ENST00000536378.5:c.-685G>T	ENSP00000444286.2:n.-685G>T
NM_000249.3:c.-53G>T , LRG_216t1:c.-53G>T	NP_000240.1:n.-53G>T
NM_001258271.1:c.-53G>T	NP_001245200.1:n.-53G>T
NM_001258273.1:c.-685G>T	NP_001245202.1:n.-685G>T
XM_005265161.1:c.-53G>T	XP_005265218.1:n.-53G>T
XM_005265164.1:c.-771G>T	XP_005265221.1:n.-771G>T
NM_001167617.2:c.-569G>T	NP_001161089.1:n.-569G>T
NM_001167618.2:c.-998G>T	NP_001161090.1:n.-998G>T
NM_001167619.2:c.-911G>T	NP_001161091.1:n.-911G>T
NM_001258274.2:c.-1148G>T	NP_001245203.1:n.-1148G>T
NM_001354615.1:c.-679G>T	NP_001341544.1:n.-679G>T
NM_001354616.1:c.-679G>T	NP_001341545.1:n.-679G>T
NM_001354617.1:c.-771G>T	NP_001341546.1:n.-771G>T
NM_001354618.1:c.-1003G>T	NP_001341547.1:n.-1003G>T
NM_001354619.1:c.-1127G>T	NP_001341548.1:n.-1127G>T
NM_001354620.1:c.-337G>T	NP_001341549.1:n.-337G>T
NM_001354621.1:c.-1096G>T	NP_001341550.1:n.-1096G>T
NM_001354622.1:c.-1209G>T	NP_001341551.1:n.-1209G>T
NM_001354623.1:c.-1118G>T	NP_001341552.1:n.-1118G>T
NM_001354624.1:c.-879G>T	NP_001341553.1:n.-879G>T
NM_001354625.1:c.-777G>T	NP_001341554.1:n.-777G>T
NM_001354626.1:c.-874G>T	NP_001341555.1:n.-874G>T
NM_001354627.1:c.-1106G>T	NP_001341556.1:n.-1106G>T
NM_001354628.1:c.-53G>T	NP_001341557.1:n.-53G>T
NM_001354629.1:c.-53G>T	NP_001341558.1:n.-53G>T
NM_001354630.1:c.-53G>T	NP_001341559.1:n.-53G>T
XM_005265161.2:c.-53G>T	XP_005265218.1:n.-53G>T