Canonical Allele Identifier: CA387506168

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23904988C>A (hg19) ; chr13:g.23330849C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330849C>A , CM000675.2:g.23330849C>A	GRCh38
NC_000013.10:g.23904988C>A , CM000675.1:g.23904988C>A	GRCh37
NC_000013.9:g.22802988C>A	NCBI36
NG_012342.1:g.107854G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2186-18734G>T	ENSP00000508399.1:n.2186-18734G>T
ENST00000682944.1:c.13054G>T	ENSP00000507173.1:p.Glu4352Ter
ENST00000683210.1:c.2185+22936G>T	ENSP00000506739.1:n.2185+22936G>T
ENST00000683270.1:c.6446-1365G>T	ENSP00000507624.1:n.6446-1365G>T
ENST00000683367.1:c.2177-1365G>T	ENSP00000507780.1:n.2177-1365G>T
ENST00000683489.1:c.2292-897G>T	ENSP00000508403.1:n.2292-897G>T
ENST00000683680.1:c.2319-897G>T	ENSP00000507223.1:n.2319-897G>T
ENST00000684163.1:c.2204-1365G>T	ENSP00000508262.1:n.2204-1365G>T
ENST00000684196.1:n.4543-1365G>T
ENST00000684325.1:c.2186-9175G>T	ENSP00000508121.1:n.2186-9175G>T
ENST00000684385.1:c.2221-1365G>T	ENSP00000507855.1:n.2221-1365G>T
ENST00000684497.1:c.2186-8205G>T	ENSP00000507057.1:n.2186-8205G>T
ENST00000382292.9:c.13027G>T MANE Select	ENSP00000371729.3:p.Glu4343Ter
ENST00000423156.2:c.2186-1365G>T	ENSP00000390925.2:n.2186-1365G>T
ENST00000455470.6:c.2432-1365G>T	ENSP00000406565.2:n.2432-1365G>T
ENST00000382292.7:c.13027G>T	ENSP00000371729.3:p.Glu4343Ter
ENST00000382298.7:c.13027G>T	ENSP00000371735.3:p.Glu4343Ter
ENST00000402364.1:c.10777G>T	ENSP00000385844.1:p.Glu3593Ter
ENST00000423156.1:c.1058-1365G>T	ENSP00000390925.1:n.1058-1365G>T
ENST00000455470.5:c.2130-1365G>T
NM_001278055.1:c.12586G>T	NP_001264984.1:p.Glu4196Ter
NM_014363.5:c.13027G>T	NP_055178.3:p.Glu4343Ter
XM_005266338.1:c.13054G>T	XP_005266395.1:p.Glu4352Ter
XM_011535038.1:c.13078G>T	XP_011533340.1:p.Glu4360Ter
XM_011535039.1:c.13045G>T	XP_011533341.1:p.Glu4349Ter
XM_005266338.2:c.13054G>T	XP_005266395.1:p.Glu4352Ter
XM_011535039.2:c.13045G>T	XP_011533341.1:p.Glu4349Ter
XM_017020539.1:c.13018G>T	XP_016876028.1:p.Glu4340Ter
XM_024449337.1:c.13054G>T	XP_024305105.1:p.Glu4352Ter
NM_014363.6:c.13027G>T MANE Select	NP_055178.3:p.Glu4343Ter
NM_001278055.2:c.12586G>T	NP_001264984.1:p.Glu4196Ter