Canonical Allele Identifier: CA387528267

Gene: SACS

Linked Data

• ClinVar Variation Id: 426711
• ClinVar RCV Id: RCV000489239 ; RCV001834590
• dbSNP Id: rs764832688
• gnomAD v4: 13-23339270-C-A
• MyVariant Identifiers: chr13:g.23913409C>A (hg19) ; chr13:g.23339270C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23339270C>A , CM000675.2:g.23339270C>A	GRCh38
NC_000013.10:g.23913409C>A , CM000675.1:g.23913409C>A	GRCh37
NC_000013.9:g.22811409C>A	NCBI36
NG_012342.1:g.99433G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+14515G>T	ENSP00000508399.1:n.2185+14515G>T
ENST00000682944.1:c.4633G>T	ENSP00000507173.1:p.Val1545Leu
ENST00000683210.1:c.2185+14515G>T	ENSP00000506739.1:n.2185+14515G>T
ENST00000683270.1:c.4597G>T	ENSP00000507624.1:p.Val1533Leu
ENST00000683367.1:c.2177-9786G>T	ENSP00000507780.1:n.2177-9786G>T
ENST00000683489.1:c.2291+2315G>T	ENSP00000508403.1:n.2291+2315G>T
ENST00000683680.1:c.2318+2315G>T	ENSP00000507223.1:n.2318+2315G>T
ENST00000684163.1:c.2203+7541G>T	ENSP00000508262.1:n.2203+7541G>T
ENST00000684196.1:n.4543-9786G>T
ENST00000684325.1:c.2185+14515G>T	ENSP00000508121.1:n.2185+14515G>T
ENST00000684385.1:c.2220+7541G>T	ENSP00000507855.1:n.2220+7541G>T
ENST00000684497.1:c.2185+14515G>T	ENSP00000507057.1:n.2185+14515G>T
ENST00000382292.9:c.4606G>T MANE Select	ENSP00000371729.3:p.Val1536Leu
ENST00000423156.2:c.2186-9786G>T	ENSP00000390925.2:n.2186-9786G>T
ENST00000455470.6:c.2431+2175G>T	ENSP00000406565.2:n.2431+2175G>T
ENST00000382292.7:c.4606G>T	ENSP00000371729.3:p.Val1536Leu
ENST00000382298.7:c.4606G>T	ENSP00000371735.3:p.Val1536Leu
ENST00000402364.1:c.2356G>T	ENSP00000385844.1:p.Val786Leu
ENST00000423156.1:c.1058-9786G>T	ENSP00000390925.1:n.1058-9786G>T
ENST00000455470.5:c.2129+2175G>T
NM_001278055.1:c.4165G>T	NP_001264984.1:p.Val1389Leu
NM_014363.5:c.4606G>T	NP_055178.3:p.Val1536Leu
XM_005266338.1:c.4633G>T	XP_005266395.1:p.Val1545Leu
XM_011535038.1:c.4657G>T	XP_011533340.1:p.Val1553Leu
XM_011535039.1:c.4624G>T	XP_011533341.1:p.Val1542Leu
XM_005266338.2:c.4633G>T	XP_005266395.1:p.Val1545Leu
XM_011535039.2:c.4624G>T	XP_011533341.1:p.Val1542Leu
XM_017020539.1:c.4597G>T	XP_016876028.1:p.Val1533Leu
XM_024449337.1:c.4633G>T	XP_024305105.1:p.Val1545Leu
NM_014363.6:c.4606G>T MANE Select	NP_055178.3:p.Val1536Leu
NM_001278055.2:c.4165G>T	NP_001264984.1:p.Val1389Leu