Canonical Allele Identifier: CA16041631

Gene: SACS

Linked Data

• ClinVar Variation Id: 371312
• ClinVar RCV Id: RCV000409004
• dbSNP Id: rs1057517172
• MyVariant Identifiers: chr13:g.23912546G>T (hg19) ; chr13:g.23338407G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23338407G>T , CM000675.2:g.23338407G>T	GRCh38
NC_000013.10:g.23912546G>T , CM000675.1:g.23912546G>T	GRCh37
NC_000013.9:g.22810546G>T	NCBI36
NG_012342.1:g.100296C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15378C>A	ENSP00000508399.1:n.2185+15378C>A
ENST00000682944.1:c.5496C>A	ENSP00000507173.1:p.Cys1832Ter
ENST00000683210.1:c.2185+15378C>A	ENSP00000506739.1:n.2185+15378C>A
ENST00000683270.1:c.5460C>A	ENSP00000507624.1:p.Cys1820Ter
ENST00000683367.1:c.2177-8923C>A	ENSP00000507780.1:n.2177-8923C>A
ENST00000683489.1:c.2291+3178C>A	ENSP00000508403.1:n.2291+3178C>A
ENST00000683680.1:c.2318+3178C>A	ENSP00000507223.1:n.2318+3178C>A
ENST00000684163.1:c.2203+8404C>A	ENSP00000508262.1:n.2203+8404C>A
ENST00000684196.1:n.4543-8923C>A
ENST00000684325.1:c.2185+15378C>A	ENSP00000508121.1:n.2185+15378C>A
ENST00000684385.1:c.2220+8404C>A	ENSP00000507855.1:n.2220+8404C>A
ENST00000684497.1:c.2185+15378C>A	ENSP00000507057.1:n.2185+15378C>A
ENST00000382292.9:c.5469C>A MANE Select	ENSP00000371729.3:p.Cys1823Ter
ENST00000423156.2:c.2186-8923C>A	ENSP00000390925.2:n.2186-8923C>A
ENST00000455470.6:c.2431+3038C>A	ENSP00000406565.2:n.2431+3038C>A
ENST00000382292.7:c.5469C>A	ENSP00000371729.3:p.Cys1823Ter
ENST00000382298.7:c.5469C>A	ENSP00000371735.3:p.Cys1823Ter
ENST00000402364.1:c.3219C>A	ENSP00000385844.1:p.Cys1073Ter
ENST00000423156.1:c.1058-8923C>A	ENSP00000390925.1:n.1058-8923C>A
ENST00000455470.5:c.2129+3038C>A
NM_001278055.1:c.5028C>A	NP_001264984.1:p.Cys1676Ter
NM_014363.5:c.5469C>A	NP_055178.3:p.Cys1823Ter
XM_005266338.1:c.5496C>A	XP_005266395.1:p.Cys1832Ter
XM_011535038.1:c.5520C>A	XP_011533340.1:p.Cys1840Ter
XM_011535039.1:c.5487C>A	XP_011533341.1:p.Cys1829Ter
XM_005266338.2:c.5496C>A	XP_005266395.1:p.Cys1832Ter
XM_011535039.2:c.5487C>A	XP_011533341.1:p.Cys1829Ter
XM_017020539.1:c.5460C>A	XP_016876028.1:p.Cys1820Ter
XM_024449337.1:c.5496C>A	XP_024305105.1:p.Cys1832Ter
NM_014363.6:c.5469C>A MANE Select	NP_055178.3:p.Cys1823Ter
NM_001278055.2:c.5028C>A	NP_001264984.1:p.Cys1676Ter