Canonical Allele Identifier: CA3721215

Gene: MSH5 MSH5-SAPCD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31758201C>G , CM000668.2:g.31758201C>G	GRCh38
NC_000006.11:g.31725978C>G , CM000668.1:g.31725978C>G	GRCh37
NC_000006.10:g.31833957C>G	NCBI36
NG_011611.1:g.23205C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_172166.4:c.1051C>G (MSH5) MANE Select	NP_751898.1:p.Arg351Gly
ENST00000375750.9:c.1051C>G (MSH5) MANE Select	ENSP00000364903.3:p.Arg351Gly
NM_002441.4:c.1051C>G (MSH5)	NP_002432.1:p.Arg351Gly
NM_002441.5:c.1051C>G (MSH5)	NP_002432.1:p.Arg351Gly
NM_025259.5:c.1102C>G (MSH5)	NP_079535.4:p.Arg368Gly
NM_025259.6:c.1102C>G (MSH5)	NP_079535.4:p.Arg368Gly
NM_172165.3:c.1051C>G (MSH5)	NP_751897.1:p.Arg351Gly
NM_172165.4:c.1051C>G (MSH5)	NP_751897.1:p.Arg351Gly
NM_172166.3:c.1051C>G (MSH5)	NP_751898.1:p.Arg351Gly
NR_037846.1:n.1230C>G (MSH5-SAPCD1)
ENST00000375703.7:c.1051C>G (MSH5)	ENSP00000364855.3:p.Arg351Gly
ENST00000375740.7:c.1102C>G (MSH5)	ENSP00000364892.3:p.Arg368Gly
ENST00000375750.7:c.1051C>G (MSH5)	ENSP00000364903.3:p.Arg351Gly
ENST00000375755.7:c.1051C>G (MSH5)	ENSP00000364908.3:p.Arg351Gly
ENST00000375755.8:c.1051C>G (MSH5)	ENSP00000364908.3:p.Arg351Gly
ENST00000395853.5:c.73C>G (MSH5)	ENSP00000379194.1:p.Arg25Gly
ENST00000423982.6:c.1051C>G (MSH5)	ENSP00000406352.2:p.Arg351Gly
ENST00000450148.5:c.562C>G (MSH5)	ENSP00000394971.1:p.Arg188Gly
ENST00000463144.5:c.738C>G (MSH5)
ENST00000467319.1:n.7C>G (MSH5)
ENST00000468136.5:n.257C>G (MSH5)
ENST00000468602.5:n.397C>G (MSH5)
ENST00000493662.6:c.1102C>G (MSH5-SAPCD1)	ENSP00000417871.2:p.Arg368Gly
ENST00000650702.1:n.1154C>G (MSH5)