Canonical Allele Identifier: CA483162493
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 1134377
ClinVar RCV Id: RCV001469267
dbSNP Id: rs1183984626

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23339019T>C , CM000675.2:g.23339019T>C GRCh38
NC_000013.10:g.23913158T>C , CM000675.1:g.23913158T>C GRCh37
NC_000013.9:g.22811158T>C NCBI36
NG_012342.1:g.99684A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+14766A>G ENSP00000508399.1:n.2185+14766A>G
ENST00000682944.1:c.4884A>G ENSP00000507173.1:p.Lys1628=
ENST00000683210.1:c.2185+14766A>G ENSP00000506739.1:n.2185+14766A>G
ENST00000683270.1:c.4848A>G ENSP00000507624.1:p.Lys1616=
ENST00000683367.1:c.2177-9535A>G ENSP00000507780.1:n.2177-9535A>G
ENST00000683489.1:c.2291+2566A>G ENSP00000508403.1:n.2291+2566A>G
ENST00000683680.1:c.2318+2566A>G ENSP00000507223.1:n.2318+2566A>G
ENST00000684163.1:c.2203+7792A>G ENSP00000508262.1:n.2203+7792A>G
ENST00000684196.1:n.4543-9535A>G
ENST00000684325.1:c.2185+14766A>G ENSP00000508121.1:n.2185+14766A>G
ENST00000684385.1:c.2220+7792A>G ENSP00000507855.1:n.2220+7792A>G
ENST00000684497.1:c.2185+14766A>G ENSP00000507057.1:n.2185+14766A>G
ENST00000382292.9:c.4857A>G MANE Select ENSP00000371729.3:p.Lys1619=
ENST00000423156.2:c.2186-9535A>G ENSP00000390925.2:n.2186-9535A>G
ENST00000455470.6:c.2431+2426A>G ENSP00000406565.2:n.2431+2426A>G
ENST00000382292.7:c.4857A>G ENSP00000371729.3:p.Lys1619=
ENST00000382298.7:c.4857A>G ENSP00000371735.3:p.Lys1619=
ENST00000402364.1:c.2607A>G ENSP00000385844.1:p.Lys869=
ENST00000423156.1:c.1058-9535A>G ENSP00000390925.1:n.1058-9535A>G
ENST00000455470.5:c.2129+2426A>G
NM_001278055.1:c.4416A>G NP_001264984.1:p.Lys1472=
NM_014363.5:c.4857A>G NP_055178.3:p.Lys1619=
XM_005266338.1:c.4884A>G XP_005266395.1:p.Lys1628=
XM_011535038.1:c.4908A>G XP_011533340.1:p.Lys1636=
XM_011535039.1:c.4875A>G XP_011533341.1:p.Lys1625=
XM_005266338.2:c.4884A>G XP_005266395.1:p.Lys1628=
XM_011535039.2:c.4875A>G XP_011533341.1:p.Lys1625=
XM_017020539.1:c.4848A>G XP_016876028.1:p.Lys1616=
XM_024449337.1:c.4884A>G XP_024305105.1:p.Lys1628=
NM_014363.6:c.4857A>G MANE Select NP_055178.3:p.Lys1619=
NM_001278055.2:c.4416A>G NP_001264984.1:p.Lys1472=