Canonical Allele Identifier: CA387510870

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23906974T>C (hg19) ; chr13:g.23332835T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23332835T>C , CM000675.2:g.23332835T>C	GRCh38
NC_000013.10:g.23906974T>C , CM000675.1:g.23906974T>C	GRCh37
NC_000013.9:g.22804974T>C	NCBI36
NG_012342.1:g.105868A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-20720A>G	ENSP00000508399.1:n.2186-20720A>G
ENST00000682944.1:c.11068A>G	ENSP00000507173.1:p.Lys3690Glu
ENST00000683210.1:c.2185+20950A>G	ENSP00000506739.1:n.2185+20950A>G
ENST00000683270.1:c.6446-3351A>G	ENSP00000507624.1:n.6446-3351A>G
ENST00000683367.1:c.2177-3351A>G	ENSP00000507780.1:n.2177-3351A>G
ENST00000683489.1:c.2292-2883A>G	ENSP00000508403.1:n.2292-2883A>G
ENST00000683680.1:c.2319-2883A>G	ENSP00000507223.1:n.2319-2883A>G
ENST00000684163.1:c.2204-3351A>G	ENSP00000508262.1:n.2204-3351A>G
ENST00000684196.1:n.4543-3351A>G
ENST00000684325.1:c.2186-11161A>G	ENSP00000508121.1:n.2186-11161A>G
ENST00000684385.1:c.2221-3351A>G	ENSP00000507855.1:n.2221-3351A>G
ENST00000684497.1:c.2186-10191A>G	ENSP00000507057.1:n.2186-10191A>G
ENST00000382292.9:c.11041A>G MANE Select	ENSP00000371729.3:p.Lys3681Glu
ENST00000423156.2:c.2186-3351A>G	ENSP00000390925.2:n.2186-3351A>G
ENST00000455470.6:c.2432-3351A>G	ENSP00000406565.2:n.2432-3351A>G
ENST00000382292.7:c.11041A>G	ENSP00000371729.3:p.Lys3681Glu
ENST00000382298.7:c.11041A>G	ENSP00000371735.3:p.Lys3681Glu
ENST00000402364.1:c.8791A>G	ENSP00000385844.1:p.Lys2931Glu
ENST00000423156.1:c.1058-3351A>G	ENSP00000390925.1:n.1058-3351A>G
ENST00000455470.5:c.2130-3351A>G
NM_001278055.1:c.10600A>G	NP_001264984.1:p.Lys3534Glu
NM_014363.5:c.11041A>G	NP_055178.3:p.Lys3681Glu
XM_005266338.1:c.11068A>G	XP_005266395.1:p.Lys3690Glu
XM_011535038.1:c.11092A>G	XP_011533340.1:p.Lys3698Glu
XM_011535039.1:c.11059A>G	XP_011533341.1:p.Lys3687Glu
XM_005266338.2:c.11068A>G	XP_005266395.1:p.Lys3690Glu
XM_011535039.2:c.11059A>G	XP_011533341.1:p.Lys3687Glu
XM_017020539.1:c.11032A>G	XP_016876028.1:p.Lys3678Glu
XM_024449337.1:c.11068A>G	XP_024305105.1:p.Lys3690Glu
NM_014363.6:c.11041A>G MANE Select	NP_055178.3:p.Lys3681Glu
NM_001278055.2:c.10600A>G	NP_001264984.1:p.Lys3534Glu