Canonical Allele Identifier: CA6912058

Gene: SACS

Linked Data

• ClinVar Variation Id: 1077712
• ClinVar RCV Id: RCV001392388 ; RCV003136066
• dbSNP Id: rs758653462
• ExAC: 13:23932517 G / A
• gnomAD v2: 13-23932517-G-A
• gnomAD v3: 13-23358378-G-A
• gnomAD v4: 13-23358378-G-A
• COSMIC: COSM1365959 ; COSM1365960
• MyVariant Identifiers: chr13:g.23932517G>A (hg19) ; chr13:g.23358378G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23358378G>A , CM000675.2:g.23358378G>A	GRCh38
NC_000013.10:g.23932517G>A , CM000675.1:g.23932517G>A	GRCh37
NC_000013.9:g.22830517G>A	NCBI36
NG_012342.1:g.80325C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.561C>T	ENSP00000508399.1:p.Val187=
ENST00000682944.1:c.561C>T	ENSP00000507173.1:p.Val187=
ENST00000683154.1:n.699C>T
ENST00000683210.1:c.561C>T	ENSP00000506739.1:p.Val187=
ENST00000683270.1:c.552C>T	ENSP00000507624.1:p.Val184=
ENST00000683367.1:c.552C>T	ENSP00000507780.1:p.Val184=
ENST00000683489.1:c.561C>T	ENSP00000508403.1:p.Val187=
ENST00000683680.1:c.561C>T	ENSP00000507223.1:p.Val187=
ENST00000684163.1:c.552C>T	ENSP00000508262.1:p.Val184=
ENST00000684196.1:n.2918C>T
ENST00000684325.1:c.561C>T	ENSP00000508121.1:p.Val187=
ENST00000684385.1:c.561C>T	ENSP00000507855.1:p.Val187=
ENST00000684497.1:c.561C>T	ENSP00000507057.1:p.Val187=
ENST00000382292.9:c.561C>T MANE Select	ENSP00000371729.3:p.Val187=
ENST00000423156.2:c.561C>T	ENSP00000390925.2:p.Val187=
ENST00000455470.6:c.561C>T	ENSP00000406565.2:p.Val187=
ENST00000382292.7:c.561C>T	ENSP00000371729.3:p.Val187=
ENST00000382298.7:c.561C>T	ENSP00000371735.3:p.Val187=
ENST00000402364.1:c.-1690C>T	ENSP00000385844.1:n.-1690C>T
ENST00000455470.5:c.259C>T
NM_001278055.1:c.120C>T	NP_001264984.1:p.Val40=
NM_014363.5:c.561C>T	NP_055178.3:p.Val187=
XM_005266338.1:c.561C>T	XP_005266395.1:p.Val187=
XM_011535038.1:c.585C>T	XP_011533340.1:p.Val195=
XM_011535039.1:c.552C>T	XP_011533341.1:p.Val184=
XM_005266338.2:c.561C>T	XP_005266395.1:p.Val187=
XM_011535039.2:c.552C>T	XP_011533341.1:p.Val184=
XM_017020539.1:c.552C>T	XP_016876028.1:p.Val184=
XM_024449337.1:c.561C>T	XP_024305105.1:p.Val187=
NM_014363.6:c.561C>T MANE Select	NP_055178.3:p.Val187=
NM_001278055.2:c.120C>T	NP_001264984.1:p.Val40=