Canonical Allele Identifier: CA769468104
Gene: MSH6 HGNC NCBI

Linked Data

dbSNP Id: rs1334515361
gnomAD v3: 2-47782968-G-A
gnomAD v4: 2-47782968-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47782968G>A , CM000664.2:g.47782968G>A GRCh38
NC_000002.11:g.48010107G>A , CM000664.1:g.48010107G>A GRCh37
NC_000002.10:g.47863611G>A NCBI36
NG_007111.1:g.4822G>A , LRG_219:g.4822G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000652107.1:c.-37-7959G>A ENSP00000498629.1:n.-37-7959G>A
ENST00000606499.1:c.-37-7959G>A ENSP00000475605.1:n.-37-7959G>A