Canonical Allele Identifier: CA387513753

Gene: SACS

Linked Data

• ClinVar Variation Id: 959674
• ClinVar RCV Id: RCV001233062
• dbSNP Id: rs1883673959
• COSMIC: COSM4046520 ; COSM4046521
• MyVariant Identifiers: chr13:g.23908271C>T (hg19) ; chr13:g.23334132C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334132C>T , CM000675.2:g.23334132C>T	GRCh38
NC_000013.10:g.23908271C>T , CM000675.1:g.23908271C>T	GRCh37
NC_000013.9:g.22806271C>T	NCBI36
NG_012342.1:g.104571G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19653G>A	ENSP00000508399.1:n.2185+19653G>A
ENST00000682944.1:c.9771G>A	ENSP00000507173.1:p.Trp3257Ter
ENST00000683210.1:c.2185+19653G>A	ENSP00000506739.1:n.2185+19653G>A
ENST00000683270.1:c.6445+3290G>A	ENSP00000507624.1:n.6445+3290G>A
ENST00000683367.1:c.2177-4648G>A	ENSP00000507780.1:n.2177-4648G>A
ENST00000683489.1:c.2292-4180G>A	ENSP00000508403.1:n.2292-4180G>A
ENST00000683680.1:c.2319-4180G>A	ENSP00000507223.1:n.2319-4180G>A
ENST00000684163.1:c.2204-4648G>A	ENSP00000508262.1:n.2204-4648G>A
ENST00000684196.1:n.4543-4648G>A
ENST00000684325.1:c.2186-12458G>A	ENSP00000508121.1:n.2186-12458G>A
ENST00000684385.1:c.2221-4648G>A	ENSP00000507855.1:n.2221-4648G>A
ENST00000684497.1:c.2186-11488G>A	ENSP00000507057.1:n.2186-11488G>A
ENST00000382292.9:c.9744G>A MANE Select	ENSP00000371729.3:p.Trp3248Ter
ENST00000423156.2:c.2186-4648G>A	ENSP00000390925.2:n.2186-4648G>A
ENST00000455470.6:c.2432-4648G>A	ENSP00000406565.2:n.2432-4648G>A
ENST00000382292.7:c.9744G>A	ENSP00000371729.3:p.Trp3248Ter
ENST00000382298.7:c.9744G>A	ENSP00000371735.3:p.Trp3248Ter
ENST00000402364.1:c.7494G>A	ENSP00000385844.1:p.Trp2498Ter
ENST00000423156.1:c.1058-4648G>A	ENSP00000390925.1:n.1058-4648G>A
ENST00000455470.5:c.2130-4648G>A
NM_001278055.1:c.9303G>A	NP_001264984.1:p.Trp3101Ter
NM_014363.5:c.9744G>A	NP_055178.3:p.Trp3248Ter
XM_005266338.1:c.9771G>A	XP_005266395.1:p.Trp3257Ter
XM_011535038.1:c.9795G>A	XP_011533340.1:p.Trp3265Ter
XM_011535039.1:c.9762G>A	XP_011533341.1:p.Trp3254Ter
XM_005266338.2:c.9771G>A	XP_005266395.1:p.Trp3257Ter
XM_011535039.2:c.9762G>A	XP_011533341.1:p.Trp3254Ter
XM_017020539.1:c.9735G>A	XP_016876028.1:p.Trp3245Ter
XM_024449337.1:c.9771G>A	XP_024305105.1:p.Trp3257Ter
NM_014363.6:c.9744G>A MANE Select	NP_055178.3:p.Trp3248Ter
NM_001278055.2:c.9303G>A	NP_001264984.1:p.Trp3101Ter