Canonical Allele Identifier: CA387511196

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23907126T>A (hg19) ; chr13:g.23332987T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23332987T>A , CM000675.2:g.23332987T>A	GRCh38
NC_000013.10:g.23907126T>A , CM000675.1:g.23907126T>A	GRCh37
NC_000013.9:g.22805126T>A	NCBI36
NG_012342.1:g.105716A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+20798A>T	ENSP00000508399.1:n.2185+20798A>T
ENST00000682944.1:c.10916A>T	ENSP00000507173.1:p.His3639Leu
ENST00000683210.1:c.2185+20798A>T	ENSP00000506739.1:n.2185+20798A>T
ENST00000683270.1:c.6446-3503A>T	ENSP00000507624.1:n.6446-3503A>T
ENST00000683367.1:c.2177-3503A>T	ENSP00000507780.1:n.2177-3503A>T
ENST00000683489.1:c.2292-3035A>T	ENSP00000508403.1:n.2292-3035A>T
ENST00000683680.1:c.2319-3035A>T	ENSP00000507223.1:n.2319-3035A>T
ENST00000684163.1:c.2204-3503A>T	ENSP00000508262.1:n.2204-3503A>T
ENST00000684196.1:n.4543-3503A>T
ENST00000684325.1:c.2186-11313A>T	ENSP00000508121.1:n.2186-11313A>T
ENST00000684385.1:c.2221-3503A>T	ENSP00000507855.1:n.2221-3503A>T
ENST00000684497.1:c.2186-10343A>T	ENSP00000507057.1:n.2186-10343A>T
ENST00000382292.9:c.10889A>T MANE Select	ENSP00000371729.3:p.His3630Leu
ENST00000423156.2:c.2186-3503A>T	ENSP00000390925.2:n.2186-3503A>T
ENST00000455470.6:c.2432-3503A>T	ENSP00000406565.2:n.2432-3503A>T
ENST00000382292.7:c.10889A>T	ENSP00000371729.3:p.His3630Leu
ENST00000382298.7:c.10889A>T	ENSP00000371735.3:p.His3630Leu
ENST00000402364.1:c.8639A>T	ENSP00000385844.1:p.His2880Leu
ENST00000423156.1:c.1058-3503A>T	ENSP00000390925.1:n.1058-3503A>T
ENST00000455470.5:c.2130-3503A>T
NM_001278055.1:c.10448A>T	NP_001264984.1:p.His3483Leu
NM_014363.5:c.10889A>T	NP_055178.3:p.His3630Leu
XM_005266338.1:c.10916A>T	XP_005266395.1:p.His3639Leu
XM_011535038.1:c.10940A>T	XP_011533340.1:p.His3647Leu
XM_011535039.1:c.10907A>T	XP_011533341.1:p.His3636Leu
XM_005266338.2:c.10916A>T	XP_005266395.1:p.His3639Leu
XM_011535039.2:c.10907A>T	XP_011533341.1:p.His3636Leu
XM_017020539.1:c.10880A>T	XP_016876028.1:p.His3627Leu
XM_024449337.1:c.10916A>T	XP_024305105.1:p.His3639Leu
NM_014363.6:c.10889A>T MANE Select	NP_055178.3:p.His3630Leu
NM_001278055.2:c.10448A>T	NP_001264984.1:p.His3483Leu