Canonical Allele Identifier: CA2496037886
Gene: MSH6 HGNC NCBI

Linked Data

dbSNP Id: rs1668098395
gnomAD v4: 2-47783103-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47783103C>T , CM000664.2:g.47783103C>T GRCh38
NC_000002.11:g.48010242C>T , CM000664.1:g.48010242C>T GRCh37
NC_000002.10:g.47863746C>T NCBI36
NG_007111.1:g.4957C>T , LRG_219:g.4957C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000652107.1:c.-37-7824C>T ENSP00000498629.1:n.-37-7824C>T
ENST00000234420.9:c.-131C>T ENSP00000234420.4:n.-131C>T
ENST00000445503.5:c.-131C>T ENSP00000405294.1:n.-131C>T
ENST00000540021.5:c.-131C>T ENSP00000446475.1:n.-131C>T
ENST00000606499.1:c.-37-7824C>T ENSP00000475605.1:n.-37-7824C>T
ENST00000614496.4:c.-867C>T ENSP00000477844.1:n.-867C>T
ENST00000622629.4:c.-3227C>T ENSP00000482078.1:n.-3227C>T
NM_000179.2:c.-131C>T , LRG_219t1:c.-131C>T NP_000170.1:n.-131C>T
NM_001281492.1:c.-131C>T NP_001268421.1:n.-131C>T
NM_001281493.1:c.-867C>T NP_001268422.1:n.-867C>T