Canonical Allele Identifier: CA3721421

Gene: MSH5 MSH5-SAPCD1

Linked Data

• ClinVar Variation Id: 403110
• ClinVar RCV Id: RCV000454707
• dbSNP Id: rs3115672
• ExAC: 6:31727897 C / T
• gnomAD v2: 6-31727897-C-T
• gnomAD v3: 6-31760120-C-T
• gnomAD v4: 6-31760120-C-T
• MyVariant Identifiers: chr6:g.31727897C>T (hg19) ; chr6:g.31760120C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31760120C>T , CM000668.2:g.31760120C>T	GRCh38
NC_000006.11:g.31727897C>T , CM000668.1:g.31727897C>T	GRCh37
NC_000006.10:g.31835876C>T	NCBI36
NG_011611.1:g.25124C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000375750.9:c.1716C>T (MSH5) MANE Select	ENSP00000364903.3:p.Thr572=
ENST00000375755.8:c.1716C>T (MSH5)	ENSP00000364908.3:p.Thr572=
ENST00000650702.1:n.2143C>T (MSH5)
ENST00000375703.7:c.1716C>T (MSH5)	ENSP00000364855.3:p.Thr572=
ENST00000375740.7:c.1767C>T (MSH5)	ENSP00000364892.3:p.Thr589=
ENST00000375750.7:c.1716C>T (MSH5)	ENSP00000364903.3:p.Thr572=
ENST00000375755.7:c.1716C>T (MSH5)	ENSP00000364908.3:p.Thr572=
ENST00000395853.5:c.738C>T (MSH5)	ENSP00000379194.1:p.Thr246=
ENST00000423982.6:c.1716C>T (MSH5)	ENSP00000406352.2:p.Thr572=
ENST00000463144.5:c.1403C>T (MSH5)
ENST00000484309.5:c.90C>T (MSH5)	ENSP00000420232.1:p.Thr30=
ENST00000493662.6:c.1767C>T (MSH5-SAPCD1)	ENSP00000417871.2:p.Thr589=
ENST00000494646.1:n.475C>T (MSH5)
ENST00000498473.6:c.289C>T (MSH5-SAPCD1)
NM_002441.4:c.1716C>T (MSH5)	NP_002432.1:p.Thr572=
NM_025259.5:c.1767C>T (MSH5)	NP_079535.4:p.Thr589=
NM_172165.3:c.1716C>T (MSH5)	NP_751897.1:p.Thr572=
NM_172166.3:c.1716C>T (MSH5)	NP_751898.1:p.Thr572=
NR_037846.1:n.1895C>T (MSH5-SAPCD1)
NM_172166.4:c.1716C>T (MSH5) MANE Select	NP_751898.1:p.Thr572=
NM_002441.5:c.1716C>T (MSH5)	NP_002432.1:p.Thr572=
NM_025259.6:c.1767C>T (MSH5)	NP_079535.4:p.Thr589=
NM_172165.4:c.1716C>T (MSH5)	NP_751897.1:p.Thr572=