Canonical Allele Identifier: CA387528981

Gene: SACS

Linked Data

• ClinVar Variation Id: 1064284
• ClinVar RCV Id: RCV001374236
• dbSNP Id: rs2137627584
• gnomAD v4: 13-23339419-T-A
• MyVariant Identifiers: chr13:g.23913558T>A (hg19) ; chr13:g.23339419T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23339419T>A , CM000675.2:g.23339419T>A	GRCh38
NC_000013.10:g.23913558T>A , CM000675.1:g.23913558T>A	GRCh37
NC_000013.9:g.22811558T>A	NCBI36
NG_012342.1:g.99284A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+14366A>T	ENSP00000508399.1:n.2185+14366A>T
ENST00000682944.1:c.4484A>T	ENSP00000507173.1:p.Asp1495Val
ENST00000683210.1:c.2185+14366A>T	ENSP00000506739.1:n.2185+14366A>T
ENST00000683270.1:c.4448A>T	ENSP00000507624.1:p.Asp1483Val
ENST00000683367.1:c.2177-9935A>T	ENSP00000507780.1:n.2177-9935A>T
ENST00000683489.1:c.2291+2166A>T	ENSP00000508403.1:n.2291+2166A>T
ENST00000683680.1:c.2318+2166A>T	ENSP00000507223.1:n.2318+2166A>T
ENST00000684163.1:c.2203+7392A>T	ENSP00000508262.1:n.2203+7392A>T
ENST00000684196.1:n.4543-9935A>T
ENST00000684325.1:c.2185+14366A>T	ENSP00000508121.1:n.2185+14366A>T
ENST00000684385.1:c.2220+7392A>T	ENSP00000507855.1:n.2220+7392A>T
ENST00000684497.1:c.2185+14366A>T	ENSP00000507057.1:n.2185+14366A>T
ENST00000382292.9:c.4457A>T MANE Select	ENSP00000371729.3:p.Asp1486Val
ENST00000423156.2:c.2186-9935A>T	ENSP00000390925.2:n.2186-9935A>T
ENST00000455470.6:c.2431+2026A>T	ENSP00000406565.2:n.2431+2026A>T
ENST00000382292.7:c.4457A>T	ENSP00000371729.3:p.Asp1486Val
ENST00000382298.7:c.4457A>T	ENSP00000371735.3:p.Asp1486Val
ENST00000402364.1:c.2207A>T	ENSP00000385844.1:p.Asp736Val
ENST00000423156.1:c.1058-9935A>T	ENSP00000390925.1:n.1058-9935A>T
ENST00000455470.5:c.2129+2026A>T
NM_001278055.1:c.4016A>T	NP_001264984.1:p.Asp1339Val
NM_014363.5:c.4457A>T	NP_055178.3:p.Asp1486Val
XM_005266338.1:c.4484A>T	XP_005266395.1:p.Asp1495Val
XM_011535038.1:c.4508A>T	XP_011533340.1:p.Asp1503Val
XM_011535039.1:c.4475A>T	XP_011533341.1:p.Asp1492Val
XM_005266338.2:c.4484A>T	XP_005266395.1:p.Asp1495Val
XM_011535039.2:c.4475A>T	XP_011533341.1:p.Asp1492Val
XM_017020539.1:c.4448A>T	XP_016876028.1:p.Asp1483Val
XM_024449337.1:c.4484A>T	XP_024305105.1:p.Asp1495Val
NM_014363.6:c.4457A>T MANE Select	NP_055178.3:p.Asp1486Val
NM_001278055.2:c.4016A>T	NP_001264984.1:p.Asp1339Val