Canonical Allele Identifier: CA387507158

Gene: SACS

Linked Data

• ClinVar Variation Id: 2785061
• ClinVar RCV Id: RCV003751067
• dbSNP Id: rs1447327391
• gnomAD v2: 13-23905333-C-T
• gnomAD v4: 13-23331194-C-T
• MyVariant Identifiers: chr13:g.23905333C>T (hg19) ; chr13:g.23331194C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23331194C>T , CM000675.2:g.23331194C>T	GRCh38
NC_000013.10:g.23905333C>T , CM000675.1:g.23905333C>T	GRCh37
NC_000013.9:g.22803333C>T	NCBI36
NG_012342.1:g.107509G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-19079G>A	ENSP00000508399.1:n.2186-19079G>A
ENST00000682944.1:c.12709G>A	ENSP00000507173.1:p.Asp4237Asn
ENST00000683210.1:c.2185+22591G>A	ENSP00000506739.1:n.2185+22591G>A
ENST00000683270.1:c.6446-1710G>A	ENSP00000507624.1:n.6446-1710G>A
ENST00000683367.1:c.2177-1710G>A	ENSP00000507780.1:n.2177-1710G>A
ENST00000683489.1:c.2292-1242G>A	ENSP00000508403.1:n.2292-1242G>A
ENST00000683680.1:c.2319-1242G>A	ENSP00000507223.1:n.2319-1242G>A
ENST00000684163.1:c.2204-1710G>A	ENSP00000508262.1:n.2204-1710G>A
ENST00000684196.1:n.4543-1710G>A
ENST00000684325.1:c.2186-9520G>A	ENSP00000508121.1:n.2186-9520G>A
ENST00000684385.1:c.2221-1710G>A	ENSP00000507855.1:n.2221-1710G>A
ENST00000684497.1:c.2186-8550G>A	ENSP00000507057.1:n.2186-8550G>A
ENST00000382292.9:c.12682G>A MANE Select	ENSP00000371729.3:p.Asp4228Asn
ENST00000423156.2:c.2186-1710G>A	ENSP00000390925.2:n.2186-1710G>A
ENST00000455470.6:c.2432-1710G>A	ENSP00000406565.2:n.2432-1710G>A
ENST00000382292.7:c.12682G>A	ENSP00000371729.3:p.Asp4228Asn
ENST00000382298.7:c.12682G>A	ENSP00000371735.3:p.Asp4228Asn
ENST00000402364.1:c.10432G>A	ENSP00000385844.1:p.Asp3478Asn
ENST00000423156.1:c.1058-1710G>A	ENSP00000390925.1:n.1058-1710G>A
ENST00000455470.5:c.2130-1710G>A
NM_001278055.1:c.12241G>A	NP_001264984.1:p.Asp4081Asn
NM_014363.5:c.12682G>A	NP_055178.3:p.Asp4228Asn
XM_005266338.1:c.12709G>A	XP_005266395.1:p.Asp4237Asn
XM_011535038.1:c.12733G>A	XP_011533340.1:p.Asp4245Asn
XM_011535039.1:c.12700G>A	XP_011533341.1:p.Asp4234Asn
XM_005266338.2:c.12709G>A	XP_005266395.1:p.Asp4237Asn
XM_011535039.2:c.12700G>A	XP_011533341.1:p.Asp4234Asn
XM_017020539.1:c.12673G>A	XP_016876028.1:p.Asp4225Asn
XM_024449337.1:c.12709G>A	XP_024305105.1:p.Asp4237Asn
NM_014363.6:c.12682G>A MANE Select	NP_055178.3:p.Asp4228Asn
NM_001278055.2:c.12241G>A	NP_001264984.1:p.Asp4081Asn