Canonical Allele Identifier: CA16041621

Gene: SACS

Linked Data

• ClinVar Variation Id: 370859
• ClinVar RCV Id: RCV000411674
• dbSNP Id: rs747676277
• MyVariant Identifiers: chr13:g.23910621G>T (hg19) ; chr13:g.23336482G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336482G>T , CM000675.2:g.23336482G>T	GRCh38
NC_000013.10:g.23910621G>T , CM000675.1:g.23910621G>T	GRCh37
NC_000013.9:g.22808621G>T	NCBI36
NG_012342.1:g.102221C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+17303C>A	ENSP00000508399.1:n.2185+17303C>A
ENST00000682944.1:c.7421C>A	ENSP00000507173.1:p.Ser2474Ter
ENST00000683210.1:c.2185+17303C>A	ENSP00000506739.1:n.2185+17303C>A
ENST00000683270.1:c.6445+940C>A	ENSP00000507624.1:n.6445+940C>A
ENST00000683367.1:c.2177-6998C>A	ENSP00000507780.1:n.2177-6998C>A
ENST00000683489.1:c.2291+5103C>A	ENSP00000508403.1:n.2291+5103C>A
ENST00000683680.1:c.2318+5103C>A	ENSP00000507223.1:n.2318+5103C>A
ENST00000684163.1:c.2204-6998C>A	ENSP00000508262.1:n.2204-6998C>A
ENST00000684196.1:n.4543-6998C>A
ENST00000684325.1:c.2186-14808C>A	ENSP00000508121.1:n.2186-14808C>A
ENST00000684385.1:c.2221-6998C>A	ENSP00000507855.1:n.2221-6998C>A
ENST00000684497.1:c.2186-13838C>A	ENSP00000507057.1:n.2186-13838C>A
ENST00000382292.9:c.7394C>A MANE Select	ENSP00000371729.3:p.Ser2465Ter
ENST00000423156.2:c.2186-6998C>A	ENSP00000390925.2:n.2186-6998C>A
ENST00000455470.6:c.2431+4963C>A	ENSP00000406565.2:n.2431+4963C>A
ENST00000382292.7:c.7394C>A	ENSP00000371729.3:p.Ser2465Ter
ENST00000382298.7:c.7394C>A	ENSP00000371735.3:p.Ser2465Ter
ENST00000402364.1:c.5144C>A	ENSP00000385844.1:p.Ser1715Ter
ENST00000423156.1:c.1058-6998C>A	ENSP00000390925.1:n.1058-6998C>A
ENST00000455470.5:c.2129+4963C>A
NM_001278055.1:c.6953C>A	NP_001264984.1:p.Ser2318Ter
NM_014363.5:c.7394C>A	NP_055178.3:p.Ser2465Ter
XM_005266338.1:c.7421C>A	XP_005266395.1:p.Ser2474Ter
XM_011535038.1:c.7445C>A	XP_011533340.1:p.Ser2482Ter
XM_011535039.1:c.7412C>A	XP_011533341.1:p.Ser2471Ter
XM_005266338.2:c.7421C>A	XP_005266395.1:p.Ser2474Ter
XM_011535039.2:c.7412C>A	XP_011533341.1:p.Ser2471Ter
XM_017020539.1:c.7385C>A	XP_016876028.1:p.Ser2462Ter
XM_024449337.1:c.7421C>A	XP_024305105.1:p.Ser2474Ter
NM_014363.6:c.7394C>A MANE Select	NP_055178.3:p.Ser2465Ter
NM_001278055.2:c.6953C>A	NP_001264984.1:p.Ser2318Ter