Canonical Allele Identifier: CA387511168

Gene: SACS

Linked Data

• ClinVar Variation Id: 1678640
• ClinVar RCV Id: RCV002225241
• dbSNP Id: rs150900362
• MyVariant Identifiers: chr13:g.23907114T>G (hg19) ; chr13:g.23332975T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23332975T>G , CM000675.2:g.23332975T>G	GRCh38
NC_000013.10:g.23907114T>G , CM000675.1:g.23907114T>G	GRCh37
NC_000013.9:g.22805114T>G	NCBI36
NG_012342.1:g.105728A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+20810A>C	ENSP00000508399.1:n.2185+20810A>C
ENST00000682944.1:c.10928A>C	ENSP00000507173.1:p.Gln3643Pro
ENST00000683210.1:c.2185+20810A>C	ENSP00000506739.1:n.2185+20810A>C
ENST00000683270.1:c.6446-3491A>C	ENSP00000507624.1:n.6446-3491A>C
ENST00000683367.1:c.2177-3491A>C	ENSP00000507780.1:n.2177-3491A>C
ENST00000683489.1:c.2292-3023A>C	ENSP00000508403.1:n.2292-3023A>C
ENST00000683680.1:c.2319-3023A>C	ENSP00000507223.1:n.2319-3023A>C
ENST00000684163.1:c.2204-3491A>C	ENSP00000508262.1:n.2204-3491A>C
ENST00000684196.1:n.4543-3491A>C
ENST00000684325.1:c.2186-11301A>C	ENSP00000508121.1:n.2186-11301A>C
ENST00000684385.1:c.2221-3491A>C	ENSP00000507855.1:n.2221-3491A>C
ENST00000684497.1:c.2186-10331A>C	ENSP00000507057.1:n.2186-10331A>C
ENST00000382292.9:c.10901A>C MANE Select	ENSP00000371729.3:p.Gln3634Pro
ENST00000423156.2:c.2186-3491A>C	ENSP00000390925.2:n.2186-3491A>C
ENST00000455470.6:c.2432-3491A>C	ENSP00000406565.2:n.2432-3491A>C
ENST00000382292.7:c.10901A>C	ENSP00000371729.3:p.Gln3634Pro
ENST00000382298.7:c.10901A>C	ENSP00000371735.3:p.Gln3634Pro
ENST00000402364.1:c.8651A>C	ENSP00000385844.1:p.Gln2884Pro
ENST00000423156.1:c.1058-3491A>C	ENSP00000390925.1:n.1058-3491A>C
ENST00000455470.5:c.2130-3491A>C
NM_001278055.1:c.10460A>C	NP_001264984.1:p.Gln3487Pro
NM_014363.5:c.10901A>C	NP_055178.3:p.Gln3634Pro
XM_005266338.1:c.10928A>C	XP_005266395.1:p.Gln3643Pro
XM_011535038.1:c.10952A>C	XP_011533340.1:p.Gln3651Pro
XM_011535039.1:c.10919A>C	XP_011533341.1:p.Gln3640Pro
XM_005266338.2:c.10928A>C	XP_005266395.1:p.Gln3643Pro
XM_011535039.2:c.10919A>C	XP_011533341.1:p.Gln3640Pro
XM_017020539.1:c.10892A>C	XP_016876028.1:p.Gln3631Pro
XM_024449337.1:c.10928A>C	XP_024305105.1:p.Gln3643Pro
NM_014363.6:c.10901A>C MANE Select	NP_055178.3:p.Gln3634Pro
NM_001278055.2:c.10460A>C	NP_001264984.1:p.Gln3487Pro