Canonical Allele Identifier: CA2496037912
Gene: MSH6 HGNC NCBI

Linked Data

dbSNP Id: rs1668100063
gnomAD v4: 2-47783127-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47783127C>T , CM000664.2:g.47783127C>T GRCh38
NC_000002.11:g.48010266C>T , CM000664.1:g.48010266C>T GRCh37
NC_000002.10:g.47863770C>T NCBI36
NG_007111.1:g.4981C>T , LRG_219:g.4981C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000652107.1:c.-37-7800C>T ENSP00000498629.1:n.-37-7800C>T
ENST00000234420.9:c.-107C>T ENSP00000234420.4:n.-107C>T
ENST00000445503.5:c.-107C>T ENSP00000405294.1:n.-107C>T
ENST00000540021.5:c.-107C>T ENSP00000446475.1:n.-107C>T
ENST00000606499.1:c.-37-7800C>T ENSP00000475605.1:n.-37-7800C>T
ENST00000614496.4:c.-843C>T ENSP00000477844.1:n.-843C>T
ENST00000622629.4:c.-3203C>T ENSP00000482078.1:n.-3203C>T
NM_000179.2:c.-107C>T , LRG_219t1:c.-107C>T NP_000170.1:n.-107C>T
NM_001281492.1:c.-107C>T NP_001268421.1:n.-107C>T
NM_001281493.1:c.-843C>T NP_001268422.1:n.-843C>T