Canonical Allele Identifier: CA246659003

Gene: SACS

Linked Data

• ClinVar Variation Id: 2156363
• ClinVar RCV Id: RCV003084119
• dbSNP Id: rs1050630305
• gnomAD v3: 13-23338291-G-C
• gnomAD v4: 13-23338291-G-C
• MyVariant Identifiers: chr13:g.23912430G>C (hg19) ; chr13:g.23338291G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23338291G>C , CM000675.2:g.23338291G>C	GRCh38
NC_000013.10:g.23912430G>C , CM000675.1:g.23912430G>C	GRCh37
NC_000013.9:g.22810430G>C	NCBI36
NG_012342.1:g.100412C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15494C>G	ENSP00000508399.1:n.2185+15494C>G
ENST00000682944.1:c.5612C>G	ENSP00000507173.1:p.Thr1871Arg
ENST00000683210.1:c.2185+15494C>G	ENSP00000506739.1:n.2185+15494C>G
ENST00000683270.1:c.5576C>G	ENSP00000507624.1:p.Thr1859Arg
ENST00000683367.1:c.2177-8807C>G	ENSP00000507780.1:n.2177-8807C>G
ENST00000683489.1:c.2291+3294C>G	ENSP00000508403.1:n.2291+3294C>G
ENST00000683680.1:c.2318+3294C>G	ENSP00000507223.1:n.2318+3294C>G
ENST00000684163.1:c.2203+8520C>G	ENSP00000508262.1:n.2203+8520C>G
ENST00000684196.1:n.4543-8807C>G
ENST00000684325.1:c.2185+15494C>G	ENSP00000508121.1:n.2185+15494C>G
ENST00000684385.1:c.2220+8520C>G	ENSP00000507855.1:n.2220+8520C>G
ENST00000684497.1:c.2185+15494C>G	ENSP00000507057.1:n.2185+15494C>G
ENST00000382292.9:c.5585C>G MANE Select	ENSP00000371729.3:p.Thr1862Arg
ENST00000423156.2:c.2186-8807C>G	ENSP00000390925.2:n.2186-8807C>G
ENST00000455470.6:c.2431+3154C>G	ENSP00000406565.2:n.2431+3154C>G
ENST00000382292.7:c.5585C>G	ENSP00000371729.3:p.Thr1862Arg
ENST00000382298.7:c.5585C>G	ENSP00000371735.3:p.Thr1862Arg
ENST00000402364.1:c.3335C>G	ENSP00000385844.1:p.Thr1112Arg
ENST00000423156.1:c.1058-8807C>G	ENSP00000390925.1:n.1058-8807C>G
ENST00000455470.5:c.2129+3154C>G
NM_001278055.1:c.5144C>G	NP_001264984.1:p.Thr1715Arg
NM_014363.5:c.5585C>G	NP_055178.3:p.Thr1862Arg
XM_005266338.1:c.5612C>G	XP_005266395.1:p.Thr1871Arg
XM_011535038.1:c.5636C>G	XP_011533340.1:p.Thr1879Arg
XM_011535039.1:c.5603C>G	XP_011533341.1:p.Thr1868Arg
XM_005266338.2:c.5612C>G	XP_005266395.1:p.Thr1871Arg
XM_011535039.2:c.5603C>G	XP_011533341.1:p.Thr1868Arg
XM_017020539.1:c.5576C>G	XP_016876028.1:p.Thr1859Arg
XM_024449337.1:c.5612C>G	XP_024305105.1:p.Thr1871Arg
NM_014363.6:c.5585C>G MANE Select	NP_055178.3:p.Thr1862Arg
NM_001278055.2:c.5144C>G	NP_001264984.1:p.Thr1715Arg