Canonical Allele Identifier: CA387513062

Gene: SACS

Linked Data

• dbSNP Id: rs1256372200
• gnomAD v2: 13-23907960-G-T
• gnomAD v4: 13-23333821-G-T
• MyVariant Identifiers: chr13:g.23907960G>T (hg19) ; chr13:g.23333821G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333821G>T , CM000675.2:g.23333821G>T	GRCh38
NC_000013.10:g.23907960G>T , CM000675.1:g.23907960G>T	GRCh37
NC_000013.9:g.22805960G>T	NCBI36
NG_012342.1:g.104882C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19964C>A	ENSP00000508399.1:n.2185+19964C>A
ENST00000682944.1:c.10082C>A	ENSP00000507173.1:p.Thr3361Lys
ENST00000683210.1:c.2185+19964C>A	ENSP00000506739.1:n.2185+19964C>A
ENST00000683270.1:c.6445+3601C>A	ENSP00000507624.1:n.6445+3601C>A
ENST00000683367.1:c.2177-4337C>A	ENSP00000507780.1:n.2177-4337C>A
ENST00000683489.1:c.2292-3869C>A	ENSP00000508403.1:n.2292-3869C>A
ENST00000683680.1:c.2319-3869C>A	ENSP00000507223.1:n.2319-3869C>A
ENST00000684163.1:c.2204-4337C>A	ENSP00000508262.1:n.2204-4337C>A
ENST00000684196.1:n.4543-4337C>A
ENST00000684325.1:c.2186-12147C>A	ENSP00000508121.1:n.2186-12147C>A
ENST00000684385.1:c.2221-4337C>A	ENSP00000507855.1:n.2221-4337C>A
ENST00000684497.1:c.2186-11177C>A	ENSP00000507057.1:n.2186-11177C>A
ENST00000382292.9:c.10055C>A MANE Select	ENSP00000371729.3:p.Thr3352Lys
ENST00000423156.2:c.2186-4337C>A	ENSP00000390925.2:n.2186-4337C>A
ENST00000455470.6:c.2432-4337C>A	ENSP00000406565.2:n.2432-4337C>A
ENST00000382292.7:c.10055C>A	ENSP00000371729.3:p.Thr3352Lys
ENST00000382298.7:c.10055C>A	ENSP00000371735.3:p.Thr3352Lys
ENST00000402364.1:c.7805C>A	ENSP00000385844.1:p.Thr2602Lys
ENST00000423156.1:c.1058-4337C>A	ENSP00000390925.1:n.1058-4337C>A
ENST00000455470.5:c.2130-4337C>A
NM_001278055.1:c.9614C>A	NP_001264984.1:p.Thr3205Lys
NM_014363.5:c.10055C>A	NP_055178.3:p.Thr3352Lys
XM_005266338.1:c.10082C>A	XP_005266395.1:p.Thr3361Lys
XM_011535038.1:c.10106C>A	XP_011533340.1:p.Thr3369Lys
XM_011535039.1:c.10073C>A	XP_011533341.1:p.Thr3358Lys
XM_005266338.2:c.10082C>A	XP_005266395.1:p.Thr3361Lys
XM_011535039.2:c.10073C>A	XP_011533341.1:p.Thr3358Lys
XM_017020539.1:c.10046C>A	XP_016876028.1:p.Thr3349Lys
XM_024449337.1:c.10082C>A	XP_024305105.1:p.Thr3361Lys
NM_014363.6:c.10055C>A MANE Select	NP_055178.3:p.Thr3352Lys
NM_001278055.2:c.9614C>A	NP_001264984.1:p.Thr3205Lys