Canonical Allele Identifier: CA387506718

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23905144T>A (hg19) ; chr13:g.23331005T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23331005T>A , CM000675.2:g.23331005T>A	GRCh38
NC_000013.10:g.23905144T>A , CM000675.1:g.23905144T>A	GRCh37
NC_000013.9:g.22803144T>A	NCBI36
NG_012342.1:g.107698A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18890A>T	ENSP00000508399.1:n.2186-18890A>T
ENST00000682944.1:c.12898A>T	ENSP00000507173.1:p.Lys4300Ter
ENST00000683210.1:c.2185+22780A>T	ENSP00000506739.1:n.2185+22780A>T
ENST00000683270.1:c.6446-1521A>T	ENSP00000507624.1:n.6446-1521A>T
ENST00000683367.1:c.2177-1521A>T	ENSP00000507780.1:n.2177-1521A>T
ENST00000683489.1:c.2292-1053A>T	ENSP00000508403.1:n.2292-1053A>T
ENST00000683680.1:c.2319-1053A>T	ENSP00000507223.1:n.2319-1053A>T
ENST00000684163.1:c.2204-1521A>T	ENSP00000508262.1:n.2204-1521A>T
ENST00000684196.1:n.4543-1521A>T
ENST00000684325.1:c.2186-9331A>T	ENSP00000508121.1:n.2186-9331A>T
ENST00000684385.1:c.2221-1521A>T	ENSP00000507855.1:n.2221-1521A>T
ENST00000684497.1:c.2186-8361A>T	ENSP00000507057.1:n.2186-8361A>T
ENST00000382292.9:c.12871A>T MANE Select	ENSP00000371729.3:p.Lys4291Ter
ENST00000423156.2:c.2186-1521A>T	ENSP00000390925.2:n.2186-1521A>T
ENST00000455470.6:c.2432-1521A>T	ENSP00000406565.2:n.2432-1521A>T
ENST00000382292.7:c.12871A>T	ENSP00000371729.3:p.Lys4291Ter
ENST00000382298.7:c.12871A>T	ENSP00000371735.3:p.Lys4291Ter
ENST00000402364.1:c.10621A>T	ENSP00000385844.1:p.Lys3541Ter
ENST00000423156.1:c.1058-1521A>T	ENSP00000390925.1:n.1058-1521A>T
ENST00000455470.5:c.2130-1521A>T
NM_001278055.1:c.12430A>T	NP_001264984.1:p.Lys4144Ter
NM_014363.5:c.12871A>T	NP_055178.3:p.Lys4291Ter
XM_005266338.1:c.12898A>T	XP_005266395.1:p.Lys4300Ter
XM_011535038.1:c.12922A>T	XP_011533340.1:p.Lys4308Ter
XM_011535039.1:c.12889A>T	XP_011533341.1:p.Lys4297Ter
XM_005266338.2:c.12898A>T	XP_005266395.1:p.Lys4300Ter
XM_011535039.2:c.12889A>T	XP_011533341.1:p.Lys4297Ter
XM_017020539.1:c.12862A>T	XP_016876028.1:p.Lys4288Ter
XM_024449337.1:c.12898A>T	XP_024305105.1:p.Lys4300Ter
NM_014363.6:c.12871A>T MANE Select	NP_055178.3:p.Lys4291Ter
NM_001278055.2:c.12430A>T	NP_001264984.1:p.Lys4144Ter