Canonical Allele Identifier: CA1030294389

Gene: MSH6

Linked Data

• dbSNP Id: rs1668102609
• gnomAD v3: 2-47783169-G-T
• gnomAD v4: 2-47783169-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47783169G>T , CM000664.2:g.47783169G>T	GRCh38
NC_000002.11:g.48010308G>T , CM000664.1:g.48010308G>T	GRCh37
NC_000002.10:g.47863812G>T	NCBI36
NG_007111.1:g.5023G>T , LRG_219:g.5023G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700004.2:c.-65G>T	ENSP00000514752.2:n.-65G>T
ENST00000699999.1:n.20G>T
ENST00000700000.1:c.-65G>T	ENSP00000514749.1:n.-65G>T
ENST00000700001.1:n.8G>T
ENST00000700002.1:c.-65G>T	ENSP00000514750.1:n.-65G>T
ENST00000234420.11:c.-65G>T MANE Select	ENSP00000234420.5:n.-65G>T
ENST00000652107.1:c.-37-7758G>T	ENSP00000498629.1:n.-37-7758G>T
ENST00000673637.1:c.-100G>T	ENSP00000501310.1:n.-100G>T
ENST00000673922.1:n.25G>T
ENST00000234420.9:c.-65G>T	ENSP00000234420.4:n.-65G>T
ENST00000445503.5:c.-65G>T	ENSP00000405294.1:n.-65G>T
ENST00000456246.1:c.-65G>T	ENSP00000410570.1:n.-65G>T
ENST00000540021.5:c.-65G>T	ENSP00000446475.1:n.-65G>T
ENST00000606499.1:c.-37-7758G>T	ENSP00000475605.1:n.-37-7758G>T
ENST00000614496.4:c.-801G>T	ENSP00000477844.1:n.-801G>T
ENST00000616033.4:c.-65G>T	ENSP00000480261.1:n.-65G>T
ENST00000622629.4:c.-3161G>T	ENSP00000482078.1:n.-3161G>T
NM_000179.2:c.-65G>T , LRG_219t1:c.-65G>T	NP_000170.1:n.-65G>T
NM_001281492.1:c.-65G>T	NP_001268421.1:n.-65G>T
NM_001281493.1:c.-801G>T	NP_001268422.1:n.-801G>T
XM_011532800.1:c.-100G>T	XP_011531102.1:n.-100G>T
XM_024452819.1:c.-65G>T	XP_024308587.1:n.-65G>T
NM_000179.3:c.-65G>T MANE Select	NP_000170.1:n.-65G>T
NM_001281492.2:c.-65G>T	NP_001268421.1:n.-65G>T
NM_001281493.2:c.-801G>T	NP_001268422.1:n.-801G>T