Canonical Allele Identifier: CA387512902

Gene: SACS

Linked Data

• dbSNP Id: rs1426856590
• COSMIC: COSM1176752 ; COSM1176753
• MyVariant Identifiers: chr13:g.23907883T>G (hg19) ; chr13:g.23333744T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333744T>G , CM000675.2:g.23333744T>G	GRCh38
NC_000013.10:g.23907883T>G , CM000675.1:g.23907883T>G	GRCh37
NC_000013.9:g.22805883T>G	NCBI36
NG_012342.1:g.104959A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+20041A>C	ENSP00000508399.1:n.2185+20041A>C
ENST00000682944.1:c.10159A>C	ENSP00000507173.1:p.Lys3387Gln
ENST00000683210.1:c.2185+20041A>C	ENSP00000506739.1:n.2185+20041A>C
ENST00000683270.1:c.6445+3678A>C	ENSP00000507624.1:n.6445+3678A>C
ENST00000683367.1:c.2177-4260A>C	ENSP00000507780.1:n.2177-4260A>C
ENST00000683489.1:c.2292-3792A>C	ENSP00000508403.1:n.2292-3792A>C
ENST00000683680.1:c.2319-3792A>C	ENSP00000507223.1:n.2319-3792A>C
ENST00000684163.1:c.2204-4260A>C	ENSP00000508262.1:n.2204-4260A>C
ENST00000684196.1:n.4543-4260A>C
ENST00000684325.1:c.2186-12070A>C	ENSP00000508121.1:n.2186-12070A>C
ENST00000684385.1:c.2221-4260A>C	ENSP00000507855.1:n.2221-4260A>C
ENST00000684497.1:c.2186-11100A>C	ENSP00000507057.1:n.2186-11100A>C
ENST00000382292.9:c.10132A>C MANE Select	ENSP00000371729.3:p.Lys3378Gln
ENST00000423156.2:c.2186-4260A>C	ENSP00000390925.2:n.2186-4260A>C
ENST00000455470.6:c.2432-4260A>C	ENSP00000406565.2:n.2432-4260A>C
ENST00000382292.7:c.10132A>C	ENSP00000371729.3:p.Lys3378Gln
ENST00000382298.7:c.10132A>C	ENSP00000371735.3:p.Lys3378Gln
ENST00000402364.1:c.7882A>C	ENSP00000385844.1:p.Lys2628Gln
ENST00000423156.1:c.1058-4260A>C	ENSP00000390925.1:n.1058-4260A>C
ENST00000455470.5:c.2130-4260A>C
NM_001278055.1:c.9691A>C	NP_001264984.1:p.Lys3231Gln
NM_014363.5:c.10132A>C	NP_055178.3:p.Lys3378Gln
XM_005266338.1:c.10159A>C	XP_005266395.1:p.Lys3387Gln
XM_011535038.1:c.10183A>C	XP_011533340.1:p.Lys3395Gln
XM_011535039.1:c.10150A>C	XP_011533341.1:p.Lys3384Gln
XM_005266338.2:c.10159A>C	XP_005266395.1:p.Lys3387Gln
XM_011535039.2:c.10150A>C	XP_011533341.1:p.Lys3384Gln
XM_017020539.1:c.10123A>C	XP_016876028.1:p.Lys3375Gln
XM_024449337.1:c.10159A>C	XP_024305105.1:p.Lys3387Gln
NM_014363.6:c.10132A>C MANE Select	NP_055178.3:p.Lys3378Gln
NM_001278055.2:c.9691A>C	NP_001264984.1:p.Lys3231Gln