Canonical Allele Identifier: CA1030294150
Gene: MSH6 HGNC NCBI

Linked Data

dbSNP Id: rs756031152
gnomAD v3: 2-47782919-G-C
gnomAD v4: 2-47782919-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47782919G>C , CM000664.2:g.47782919G>C GRCh38
NC_000002.11:g.48010058G>C , CM000664.1:g.48010058G>C GRCh37
NC_000002.10:g.47863562G>C NCBI36
NG_007111.1:g.4773G>C , LRG_219:g.4773G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000652107.1:c.-37-8008G>C ENSP00000498629.1:n.-37-8008G>C
ENST00000606499.1:c.-37-8008G>C ENSP00000475605.1:n.-37-8008G>C