Canonical Allele Identifier: CA1030294394

Gene: MSH6

Linked Data

• dbSNP Id: rs1668103064
• gnomAD v3: 2-47783176-A-G
• gnomAD v4: 2-47783176-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47783176A>G , CM000664.2:g.47783176A>G	GRCh38
NC_000002.11:g.48010315A>G , CM000664.1:g.48010315A>G	GRCh37
NC_000002.10:g.47863819A>G	NCBI36
NG_007111.1:g.5030A>G , LRG_219:g.5030A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700004.2:c.-58A>G	ENSP00000514752.2:n.-58A>G
ENST00000699999.1:n.27A>G
ENST00000700000.1:c.-58A>G	ENSP00000514749.1:n.-58A>G
ENST00000700001.1:n.15A>G
ENST00000700002.1:c.-58A>G	ENSP00000514750.1:n.-58A>G
ENST00000234420.11:c.-58A>G MANE Select	ENSP00000234420.5:n.-58A>G
ENST00000652107.1:c.-37-7751A>G	ENSP00000498629.1:n.-37-7751A>G
ENST00000673637.1:c.-93A>G	ENSP00000501310.1:n.-93A>G
ENST00000673922.1:n.32A>G
ENST00000234420.9:c.-58A>G	ENSP00000234420.4:n.-58A>G
ENST00000445503.5:c.-58A>G	ENSP00000405294.1:n.-58A>G
ENST00000456246.1:c.-58A>G	ENSP00000410570.1:n.-58A>G
ENST00000493177.1:n.7A>G
ENST00000540021.5:c.-58A>G	ENSP00000446475.1:n.-58A>G
ENST00000606499.1:c.-37-7751A>G	ENSP00000475605.1:n.-37-7751A>G
ENST00000614496.4:c.-794A>G	ENSP00000477844.1:n.-794A>G
ENST00000616033.4:c.-58A>G	ENSP00000480261.1:n.-58A>G
ENST00000622629.4:c.-3154A>G	ENSP00000482078.1:n.-3154A>G
NM_000179.2:c.-58A>G , LRG_219t1:c.-58A>G	NP_000170.1:n.-58A>G
NM_001281492.1:c.-58A>G	NP_001268421.1:n.-58A>G
NM_001281493.1:c.-794A>G	NP_001268422.1:n.-794A>G
XM_011532800.1:c.-93A>G	XP_011531102.1:n.-93A>G
XM_024452819.1:c.-58A>G	XP_024308587.1:n.-58A>G
NM_000179.3:c.-58A>G MANE Select	NP_000170.1:n.-58A>G
NM_001281492.2:c.-58A>G	NP_001268421.1:n.-58A>G
NM_001281493.2:c.-794A>G	NP_001268422.1:n.-794A>G