Canonical Allele Identifier: CA2658965118
Gene: MSH6 HGNC NCBI

Linked Data

gnomAD v4: 2-47783154-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47783154G>T , CM000664.2:g.47783154G>T GRCh38
NC_000002.11:g.48010293G>T , CM000664.1:g.48010293G>T GRCh37
NC_000002.10:g.47863797G>T NCBI36
NG_007111.1:g.5008G>T , LRG_219:g.5008G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000700004.2:c.-80G>T ENSP00000514752.2:n.-80G>T
ENST00000699999.1:n.5G>T
ENST00000700000.1:c.-80G>T ENSP00000514749.1:n.-80G>T
ENST00000234420.11:c.-80G>T MANE Select ENSP00000234420.5:n.-80G>T
ENST00000652107.1:c.-37-7773G>T ENSP00000498629.1:n.-37-7773G>T
ENST00000673637.1:c.-115G>T ENSP00000501310.1:n.-115G>T
ENST00000673922.1:n.10G>T
ENST00000234420.9:c.-80G>T ENSP00000234420.4:n.-80G>T
ENST00000445503.5:c.-80G>T ENSP00000405294.1:n.-80G>T
ENST00000456246.1:c.-80G>T ENSP00000410570.1:n.-80G>T
ENST00000540021.5:c.-80G>T ENSP00000446475.1:n.-80G>T
ENST00000606499.1:c.-37-7773G>T ENSP00000475605.1:n.-37-7773G>T
ENST00000614496.4:c.-816G>T ENSP00000477844.1:n.-816G>T
ENST00000616033.4:c.-80G>T ENSP00000480261.1:n.-80G>T
ENST00000622629.4:c.-3176G>T ENSP00000482078.1:n.-3176G>T
NM_000179.2:c.-80G>T , LRG_219t1:c.-80G>T NP_000170.1:n.-80G>T
NM_001281492.1:c.-80G>T NP_001268421.1:n.-80G>T
NM_001281493.1:c.-816G>T NP_001268422.1:n.-816G>T
XM_024452819.1:c.-80G>T XP_024308587.1:n.-80G>T
NM_000179.3:c.-80G>T MANE Select NP_000170.1:n.-80G>T
NM_001281492.2:c.-80G>T NP_001268421.1:n.-80G>T
NM_001281493.2:c.-816G>T NP_001268422.1:n.-816G>T