Canonical Allele Identifier: CA769468191
Gene: MSH6 HGNC NCBI

Linked Data

dbSNP Id: rs567494036
gnomAD v3: 2-47783053-G-A
gnomAD v4: 2-47783053-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47783053G>A , CM000664.2:g.47783053G>A GRCh38
NC_000002.11:g.48010192G>A , CM000664.1:g.48010192G>A GRCh37
NC_000002.10:g.47863696G>A NCBI36
NG_007111.1:g.4907G>A , LRG_219:g.4907G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000652107.1:c.-37-7874G>A ENSP00000498629.1:n.-37-7874G>A
ENST00000606499.1:c.-37-7874G>A ENSP00000475605.1:n.-37-7874G>A