Canonical Allele Identifier: CA1357864611
Gene: MLH1 HGNC NCBI
EPM2AIP1 HGNC NCBI

Linked Data

dbSNP Id: rs2080861183

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993301A>C , CM000665.2:g.36993301A>C GRCh38
NC_000003.11:g.37034792A>C , CM000665.1:g.37034792A>C GRCh37
NC_000003.10:g.37009796A>C NCBI36
NG_007109.2:g.4952A>C , LRG_216:g.4952A>C
NG_008418.1:g.5004T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000673673.2:c.-247A>C (MLH1) ENSP00000500979.2:n.-247A>C
NM_014805.3:c.-224T>G (EPM2AIP1) NP_055620.1:n.-224T>G