Canonical Allele Identifier: CA6910065

Gene: SACS

Linked Data

• ClinVar Variation Id: 2060230
• ClinVar RCV Id: RCV002957608
• dbSNP Id: rs773771835
• ExAC: 13:23905166 T / C
• gnomAD v2: 13-23905166-T-C
• gnomAD v3: 13-23331027-T-C
• gnomAD v4: 13-23331027-T-C
• MyVariant Identifiers: chr13:g.23905166T>C (hg19) ; chr13:g.23331027T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23331027T>C , CM000675.2:g.23331027T>C	GRCh38
NC_000013.10:g.23905166T>C , CM000675.1:g.23905166T>C	GRCh37
NC_000013.9:g.22803166T>C	NCBI36
NG_012342.1:g.107676A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18912A>G	ENSP00000508399.1:n.2186-18912A>G
ENST00000682944.1:c.12876A>G	ENSP00000507173.1:p.Arg4292=
ENST00000683210.1:c.2185+22758A>G	ENSP00000506739.1:n.2185+22758A>G
ENST00000683270.1:c.6446-1543A>G	ENSP00000507624.1:n.6446-1543A>G
ENST00000683367.1:c.2177-1543A>G	ENSP00000507780.1:n.2177-1543A>G
ENST00000683489.1:c.2292-1075A>G	ENSP00000508403.1:n.2292-1075A>G
ENST00000683680.1:c.2319-1075A>G	ENSP00000507223.1:n.2319-1075A>G
ENST00000684163.1:c.2204-1543A>G	ENSP00000508262.1:n.2204-1543A>G
ENST00000684196.1:n.4543-1543A>G
ENST00000684325.1:c.2186-9353A>G	ENSP00000508121.1:n.2186-9353A>G
ENST00000684385.1:c.2221-1543A>G	ENSP00000507855.1:n.2221-1543A>G
ENST00000684497.1:c.2186-8383A>G	ENSP00000507057.1:n.2186-8383A>G
ENST00000382292.9:c.12849A>G MANE Select	ENSP00000371729.3:p.Arg4283=
ENST00000423156.2:c.2186-1543A>G	ENSP00000390925.2:n.2186-1543A>G
ENST00000455470.6:c.2432-1543A>G	ENSP00000406565.2:n.2432-1543A>G
ENST00000382292.7:c.12849A>G	ENSP00000371729.3:p.Arg4283=
ENST00000382298.7:c.12849A>G	ENSP00000371735.3:p.Arg4283=
ENST00000402364.1:c.10599A>G	ENSP00000385844.1:p.Arg3533=
ENST00000423156.1:c.1058-1543A>G	ENSP00000390925.1:n.1058-1543A>G
ENST00000455470.5:c.2130-1543A>G
NM_001278055.1:c.12408A>G	NP_001264984.1:p.Arg4136=
NM_014363.5:c.12849A>G	NP_055178.3:p.Arg4283=
XM_005266338.1:c.12876A>G	XP_005266395.1:p.Arg4292=
XM_011535038.1:c.12900A>G	XP_011533340.1:p.Arg4300=
XM_011535039.1:c.12867A>G	XP_011533341.1:p.Arg4289=
XM_005266338.2:c.12876A>G	XP_005266395.1:p.Arg4292=
XM_011535039.2:c.12867A>G	XP_011533341.1:p.Arg4289=
XM_017020539.1:c.12840A>G	XP_016876028.1:p.Arg4280=
XM_024449337.1:c.12876A>G	XP_024305105.1:p.Arg4292=
NM_014363.6:c.12849A>G MANE Select	NP_055178.3:p.Arg4283=
NM_001278055.2:c.12408A>G	NP_001264984.1:p.Arg4136=