Canonical Allele Identifier: CA2658964998
Gene: MSH6 HGNC NCBI

Linked Data

gnomAD v4: 2-47783109-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47783109G>C , CM000664.2:g.47783109G>C GRCh38
NC_000002.11:g.48010248G>C , CM000664.1:g.48010248G>C GRCh37
NC_000002.10:g.47863752G>C NCBI36
NG_007111.1:g.4963G>C , LRG_219:g.4963G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000652107.1:c.-37-7818G>C ENSP00000498629.1:n.-37-7818G>C
ENST00000234420.9:c.-125G>C ENSP00000234420.4:n.-125G>C
ENST00000445503.5:c.-125G>C ENSP00000405294.1:n.-125G>C
ENST00000540021.5:c.-125G>C ENSP00000446475.1:n.-125G>C
ENST00000606499.1:c.-37-7818G>C ENSP00000475605.1:n.-37-7818G>C
ENST00000614496.4:c.-861G>C ENSP00000477844.1:n.-861G>C
ENST00000622629.4:c.-3221G>C ENSP00000482078.1:n.-3221G>C
NM_000179.2:c.-125G>C , LRG_219t1:c.-125G>C NP_000170.1:n.-125G>C
NM_001281492.1:c.-125G>C NP_001268421.1:n.-125G>C
NM_001281493.1:c.-861G>C NP_001268422.1:n.-861G>C