Canonical Allele Identifier: CA483161436

Gene: SACS

Linked Data

• gnomAD v4: 13-23337219-C-T
• MyVariant Identifiers: chr13:g.23911358C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337219C>T , CM000675.2:g.23337219C>T	GRCh38
NC_000013.10:g.23911358C>T , CM000675.1:g.23911358C>T	GRCh37
NC_000013.9:g.22809358C>T	NCBI36
NG_012342.1:g.101484G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16566G>A	ENSP00000508399.1:n.2185+16566G>A
ENST00000682944.1:c.6684G>A	ENSP00000507173.1:p.Leu2228=
ENST00000683210.1:c.2185+16566G>A	ENSP00000506739.1:n.2185+16566G>A
ENST00000683270.1:c.6445+203G>A	ENSP00000507624.1:n.6445+203G>A
ENST00000683367.1:c.2177-7735G>A	ENSP00000507780.1:n.2177-7735G>A
ENST00000683489.1:c.2291+4366G>A	ENSP00000508403.1:n.2291+4366G>A
ENST00000683680.1:c.2318+4366G>A	ENSP00000507223.1:n.2318+4366G>A
ENST00000684163.1:c.2204-7735G>A	ENSP00000508262.1:n.2204-7735G>A
ENST00000684196.1:n.4543-7735G>A
ENST00000684325.1:c.2186-15545G>A	ENSP00000508121.1:n.2186-15545G>A
ENST00000684385.1:c.2221-7735G>A	ENSP00000507855.1:n.2221-7735G>A
ENST00000684497.1:c.2186-14575G>A	ENSP00000507057.1:n.2186-14575G>A
ENST00000382292.9:c.6657G>A MANE Select	ENSP00000371729.3:p.Leu2219=
ENST00000423156.2:c.2186-7735G>A	ENSP00000390925.2:n.2186-7735G>A
ENST00000455470.6:c.2431+4226G>A	ENSP00000406565.2:n.2431+4226G>A
ENST00000382292.7:c.6657G>A	ENSP00000371729.3:p.Leu2219=
ENST00000382298.7:c.6657G>A	ENSP00000371735.3:p.Leu2219=
ENST00000402364.1:c.4407G>A	ENSP00000385844.1:p.Leu1469=
ENST00000423156.1:c.1058-7735G>A	ENSP00000390925.1:n.1058-7735G>A
ENST00000455470.5:c.2129+4226G>A
NM_001278055.1:c.6216G>A	NP_001264984.1:p.Leu2072=
NM_014363.5:c.6657G>A	NP_055178.3:p.Leu2219=
XM_005266338.1:c.6684G>A	XP_005266395.1:p.Leu2228=
XM_011535038.1:c.6708G>A	XP_011533340.1:p.Leu2236=
XM_011535039.1:c.6675G>A	XP_011533341.1:p.Leu2225=
XM_005266338.2:c.6684G>A	XP_005266395.1:p.Leu2228=
XM_011535039.2:c.6675G>A	XP_011533341.1:p.Leu2225=
XM_017020539.1:c.6648G>A	XP_016876028.1:p.Leu2216=
XM_024449337.1:c.6684G>A	XP_024305105.1:p.Leu2228=
NM_014363.6:c.6657G>A MANE Select	NP_055178.3:p.Leu2219=
NM_001278055.2:c.6216G>A	NP_001264984.1:p.Leu2072=