Canonical Allele Identifier: CA483161638

Gene: SACS

Linked Data

• gnomAD v4: 13-23337567-C-T
• MyVariant Identifiers: chr13:g.23911706C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337567C>T , CM000675.2:g.23337567C>T	GRCh38
NC_000013.10:g.23911706C>T , CM000675.1:g.23911706C>T	GRCh37
NC_000013.9:g.22809706C>T	NCBI36
NG_012342.1:g.101136G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16218G>A	ENSP00000508399.1:n.2185+16218G>A
ENST00000682944.1:c.6336G>A	ENSP00000507173.1:p.Glu2112=
ENST00000683210.1:c.2185+16218G>A	ENSP00000506739.1:n.2185+16218G>A
ENST00000683270.1:c.6300G>A	ENSP00000507624.1:p.Glu2100=
ENST00000683367.1:c.2177-8083G>A	ENSP00000507780.1:n.2177-8083G>A
ENST00000683489.1:c.2291+4018G>A	ENSP00000508403.1:n.2291+4018G>A
ENST00000683680.1:c.2318+4018G>A	ENSP00000507223.1:n.2318+4018G>A
ENST00000684163.1:c.2204-8083G>A	ENSP00000508262.1:n.2204-8083G>A
ENST00000684196.1:n.4543-8083G>A
ENST00000684325.1:c.2186-15893G>A	ENSP00000508121.1:n.2186-15893G>A
ENST00000684385.1:c.2221-8083G>A	ENSP00000507855.1:n.2221-8083G>A
ENST00000684497.1:c.2186-14923G>A	ENSP00000507057.1:n.2186-14923G>A
ENST00000382292.9:c.6309G>A MANE Select	ENSP00000371729.3:p.Glu2103=
ENST00000423156.2:c.2186-8083G>A	ENSP00000390925.2:n.2186-8083G>A
ENST00000455470.6:c.2431+3878G>A	ENSP00000406565.2:n.2431+3878G>A
ENST00000382292.7:c.6309G>A	ENSP00000371729.3:p.Glu2103=
ENST00000382298.7:c.6309G>A	ENSP00000371735.3:p.Glu2103=
ENST00000402364.1:c.4059G>A	ENSP00000385844.1:p.Glu1353=
ENST00000423156.1:c.1058-8083G>A	ENSP00000390925.1:n.1058-8083G>A
ENST00000455470.5:c.2129+3878G>A
NM_001278055.1:c.5868G>A	NP_001264984.1:p.Glu1956=
NM_014363.5:c.6309G>A	NP_055178.3:p.Glu2103=
XM_005266338.1:c.6336G>A	XP_005266395.1:p.Glu2112=
XM_011535038.1:c.6360G>A	XP_011533340.1:p.Glu2120=
XM_011535039.1:c.6327G>A	XP_011533341.1:p.Glu2109=
XM_005266338.2:c.6336G>A	XP_005266395.1:p.Glu2112=
XM_011535039.2:c.6327G>A	XP_011533341.1:p.Glu2109=
XM_017020539.1:c.6300G>A	XP_016876028.1:p.Glu2100=
XM_024449337.1:c.6336G>A	XP_024305105.1:p.Glu2112=
NM_014363.6:c.6309G>A MANE Select	NP_055178.3:p.Glu2103=
NM_001278055.2:c.5868G>A	NP_001264984.1:p.Glu1956=