Canonical Allele Identifier: CA387511010

Gene: SACS

Linked Data

• gnomAD v4: 13-23332900-G-A
• MyVariant Identifiers: chr13:g.23907039G>A (hg19) ; chr13:g.23332900G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23332900G>A , CM000675.2:g.23332900G>A	GRCh38
NC_000013.10:g.23907039G>A , CM000675.1:g.23907039G>A	GRCh37
NC_000013.9:g.22805039G>A	NCBI36
NG_012342.1:g.105803C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-20785C>T	ENSP00000508399.1:n.2186-20785C>T
ENST00000682944.1:c.11003C>T	ENSP00000507173.1:p.Ala3668Val
ENST00000683210.1:c.2185+20885C>T	ENSP00000506739.1:n.2185+20885C>T
ENST00000683270.1:c.6446-3416C>T	ENSP00000507624.1:n.6446-3416C>T
ENST00000683367.1:c.2177-3416C>T	ENSP00000507780.1:n.2177-3416C>T
ENST00000683489.1:c.2292-2948C>T	ENSP00000508403.1:n.2292-2948C>T
ENST00000683680.1:c.2319-2948C>T	ENSP00000507223.1:n.2319-2948C>T
ENST00000684163.1:c.2204-3416C>T	ENSP00000508262.1:n.2204-3416C>T
ENST00000684196.1:n.4543-3416C>T
ENST00000684325.1:c.2186-11226C>T	ENSP00000508121.1:n.2186-11226C>T
ENST00000684385.1:c.2221-3416C>T	ENSP00000507855.1:n.2221-3416C>T
ENST00000684497.1:c.2186-10256C>T	ENSP00000507057.1:n.2186-10256C>T
ENST00000382292.9:c.10976C>T MANE Select	ENSP00000371729.3:p.Ala3659Val
ENST00000423156.2:c.2186-3416C>T	ENSP00000390925.2:n.2186-3416C>T
ENST00000455470.6:c.2432-3416C>T	ENSP00000406565.2:n.2432-3416C>T
ENST00000382292.7:c.10976C>T	ENSP00000371729.3:p.Ala3659Val
ENST00000382298.7:c.10976C>T	ENSP00000371735.3:p.Ala3659Val
ENST00000402364.1:c.8726C>T	ENSP00000385844.1:p.Ala2909Val
ENST00000423156.1:c.1058-3416C>T	ENSP00000390925.1:n.1058-3416C>T
ENST00000455470.5:c.2130-3416C>T
NM_001278055.1:c.10535C>T	NP_001264984.1:p.Ala3512Val
NM_014363.5:c.10976C>T	NP_055178.3:p.Ala3659Val
XM_005266338.1:c.11003C>T	XP_005266395.1:p.Ala3668Val
XM_011535038.1:c.11027C>T	XP_011533340.1:p.Ala3676Val
XM_011535039.1:c.10994C>T	XP_011533341.1:p.Ala3665Val
XM_005266338.2:c.11003C>T	XP_005266395.1:p.Ala3668Val
XM_011535039.2:c.10994C>T	XP_011533341.1:p.Ala3665Val
XM_017020539.1:c.10967C>T	XP_016876028.1:p.Ala3656Val
XM_024449337.1:c.11003C>T	XP_024305105.1:p.Ala3668Val
NM_014363.6:c.10976C>T MANE Select	NP_055178.3:p.Ala3659Val
NM_001278055.2:c.10535C>T	NP_001264984.1:p.Ala3512Val