Canonical Allele Identifier: CA1619291929
Gene: MSH5 HGNC NCBI
MSH5-SAPCD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31759476G= , CM000668.2:g.31759476G= GRCh38
NC_000006.11:g.31727253G= , CM000668.1:g.31727253G= GRCh37
NC_000006.10:g.31835232G= NCBI36
NG_011611.1:g.24480G=

Transcript Alleles

HGVS Amino-acid Change
NM_172166.4:c.1459G= (MSH5) MANE Select NP_751898.1:p.Asp487=
ENST00000375750.9:c.1459G= (MSH5) MANE Select ENSP00000364903.3:p.Asp487=
NM_002441.4:c.1459G= (MSH5) NP_002432.1:p.Asp487=
NM_002441.5:c.1459G= (MSH5) NP_002432.1:p.Asp487=
NM_025259.5:c.1510G= (MSH5) NP_079535.4:p.Asp504=
NM_025259.6:c.1510G= (MSH5) NP_079535.4:p.Asp504=
NM_172165.3:c.1459G= (MSH5) NP_751897.1:p.Asp487=
NM_172165.4:c.1459G= (MSH5) NP_751897.1:p.Asp487=
NM_172166.3:c.1459G= (MSH5) NP_751898.1:p.Asp487=
NR_037846.1:n.1638G= (MSH5-SAPCD1)
ENST00000375703.7:c.1459G= (MSH5) ENSP00000364855.3:p.Asp487=
ENST00000375740.7:c.1510G= (MSH5) ENSP00000364892.3:p.Asp504=
ENST00000375750.7:c.1459G= (MSH5) ENSP00000364903.3:p.Asp487=
ENST00000375755.7:c.1459G= (MSH5) ENSP00000364908.3:p.Asp487=
ENST00000375755.8:c.1459G= (MSH5) ENSP00000364908.3:p.Asp487=
ENST00000395853.5:c.481G= (MSH5) ENSP00000379194.1:p.Asp161=
ENST00000423982.6:c.1459G= (MSH5) ENSP00000406352.2:p.Asp487=
ENST00000450148.5:c.985G= (MSH5) ENSP00000394971.1:p.Asp329=
ENST00000463144.5:c.1146G= (MSH5)
ENST00000467319.1:n.662G= (MSH5)
ENST00000468136.5:n.665G= (MSH5)
ENST00000493662.6:c.1510G= (MSH5-SAPCD1) ENSP00000417871.2:p.Asp504=
ENST00000498473.6:c.32G= (MSH5-SAPCD1)
ENST00000650702.1:n.1809G= (MSH5)