Canonical Allele Identifier: CA483163365

Gene: SACS

Linked Data

• ClinVar Variation Id: 2002213
• ClinVar RCV Id: RCV002820229
• MyVariant Identifiers: chr13:g.23914834G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23340695G>A , CM000675.2:g.23340695G>A	GRCh38
NC_000013.10:g.23914834G>A , CM000675.1:g.23914834G>A	GRCh37
NC_000013.9:g.22812834G>A	NCBI36
NG_012342.1:g.98008C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+13090C>T	ENSP00000508399.1:n.2185+13090C>T
ENST00000682944.1:c.3208C>T	ENSP00000507173.1:p.Leu1070=
ENST00000683210.1:c.2185+13090C>T	ENSP00000506739.1:n.2185+13090C>T
ENST00000683270.1:c.3172C>T	ENSP00000507624.1:p.Leu1058=
ENST00000683367.1:c.2177-11211C>T	ENSP00000507780.1:n.2177-11211C>T
ENST00000683489.1:c.2291+890C>T	ENSP00000508403.1:n.2291+890C>T
ENST00000683680.1:c.2318+890C>T	ENSP00000507223.1:n.2318+890C>T
ENST00000684163.1:c.2203+6116C>T	ENSP00000508262.1:n.2203+6116C>T
ENST00000684196.1:n.4543-11211C>T
ENST00000684325.1:c.2185+13090C>T	ENSP00000508121.1:n.2185+13090C>T
ENST00000684385.1:c.2220+6116C>T	ENSP00000507855.1:n.2220+6116C>T
ENST00000684497.1:c.2185+13090C>T	ENSP00000507057.1:n.2185+13090C>T
ENST00000382292.9:c.3181C>T MANE Select	ENSP00000371729.3:p.Leu1061=
ENST00000423156.2:c.2186-11211C>T	ENSP00000390925.2:n.2186-11211C>T
ENST00000455470.6:c.2431+750C>T	ENSP00000406565.2:n.2431+750C>T
ENST00000382292.7:c.3181C>T	ENSP00000371729.3:p.Leu1061=
ENST00000382298.7:c.3181C>T	ENSP00000371735.3:p.Leu1061=
ENST00000402364.1:c.931C>T	ENSP00000385844.1:p.Leu311=
ENST00000423156.1:c.1058-11211C>T	ENSP00000390925.1:n.1058-11211C>T
ENST00000455470.5:c.2129+750C>T
NM_001278055.1:c.2740C>T	NP_001264984.1:p.Leu914=
NM_014363.5:c.3181C>T	NP_055178.3:p.Leu1061=
XM_005266338.1:c.3208C>T	XP_005266395.1:p.Leu1070=
XM_011535038.1:c.3232C>T	XP_011533340.1:p.Leu1078=
XM_011535039.1:c.3199C>T	XP_011533341.1:p.Leu1067=
XM_005266338.2:c.3208C>T	XP_005266395.1:p.Leu1070=
XM_011535039.2:c.3199C>T	XP_011533341.1:p.Leu1067=
XM_017020539.1:c.3172C>T	XP_016876028.1:p.Leu1058=
XM_024449337.1:c.3208C>T	XP_024305105.1:p.Leu1070=
NM_014363.6:c.3181C>T MANE Select	NP_055178.3:p.Leu1061=
NM_001278055.2:c.2740C>T	NP_001264984.1:p.Leu914=