Canonical Allele Identifier: CA387512370

Gene: SACS

Linked Data

• COSMIC: COSM946010 ; COSM1586959
• MyVariant Identifiers: chr13:g.23907648T>G (hg19) ; chr13:g.23333509T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333509T>G , CM000675.2:g.23333509T>G	GRCh38
NC_000013.10:g.23907648T>G , CM000675.1:g.23907648T>G	GRCh37
NC_000013.9:g.22805648T>G	NCBI36
NG_012342.1:g.105194A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+20276A>C	ENSP00000508399.1:n.2185+20276A>C
ENST00000682944.1:c.10394A>C	ENSP00000507173.1:p.Lys3465Thr
ENST00000683210.1:c.2185+20276A>C	ENSP00000506739.1:n.2185+20276A>C
ENST00000683270.1:c.6445+3913A>C	ENSP00000507624.1:n.6445+3913A>C
ENST00000683367.1:c.2177-4025A>C	ENSP00000507780.1:n.2177-4025A>C
ENST00000683489.1:c.2292-3557A>C	ENSP00000508403.1:n.2292-3557A>C
ENST00000683680.1:c.2319-3557A>C	ENSP00000507223.1:n.2319-3557A>C
ENST00000684163.1:c.2204-4025A>C	ENSP00000508262.1:n.2204-4025A>C
ENST00000684196.1:n.4543-4025A>C
ENST00000684325.1:c.2186-11835A>C	ENSP00000508121.1:n.2186-11835A>C
ENST00000684385.1:c.2221-4025A>C	ENSP00000507855.1:n.2221-4025A>C
ENST00000684497.1:c.2186-10865A>C	ENSP00000507057.1:n.2186-10865A>C
ENST00000382292.9:c.10367A>C MANE Select	ENSP00000371729.3:p.Lys3456Thr
ENST00000423156.2:c.2186-4025A>C	ENSP00000390925.2:n.2186-4025A>C
ENST00000455470.6:c.2432-4025A>C	ENSP00000406565.2:n.2432-4025A>C
ENST00000382292.7:c.10367A>C	ENSP00000371729.3:p.Lys3456Thr
ENST00000382298.7:c.10367A>C	ENSP00000371735.3:p.Lys3456Thr
ENST00000402364.1:c.8117A>C	ENSP00000385844.1:p.Lys2706Thr
ENST00000423156.1:c.1058-4025A>C	ENSP00000390925.1:n.1058-4025A>C
ENST00000455470.5:c.2130-4025A>C
NM_001278055.1:c.9926A>C	NP_001264984.1:p.Lys3309Thr
NM_014363.5:c.10367A>C	NP_055178.3:p.Lys3456Thr
XM_005266338.1:c.10394A>C	XP_005266395.1:p.Lys3465Thr
XM_011535038.1:c.10418A>C	XP_011533340.1:p.Lys3473Thr
XM_011535039.1:c.10385A>C	XP_011533341.1:p.Lys3462Thr
XM_005266338.2:c.10394A>C	XP_005266395.1:p.Lys3465Thr
XM_011535039.2:c.10385A>C	XP_011533341.1:p.Lys3462Thr
XM_017020539.1:c.10358A>C	XP_016876028.1:p.Lys3453Thr
XM_024449337.1:c.10394A>C	XP_024305105.1:p.Lys3465Thr
NM_014363.6:c.10367A>C MANE Select	NP_055178.3:p.Lys3456Thr
NM_001278055.2:c.9926A>C	NP_001264984.1:p.Lys3309Thr