Canonical Allele Identifier: CA387527262
Gene: SACS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23339021T>C , CM000675.2:g.23339021T>C GRCh38
NC_000013.10:g.23913160T>C , CM000675.1:g.23913160T>C GRCh37
NC_000013.9:g.22811160T>C NCBI36
NG_012342.1:g.99682A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+14764A>G ENSP00000508399.1:n.2185+14764A>G
ENST00000682944.1:c.4882A>G ENSP00000507173.1:p.Lys1628Glu
ENST00000683210.1:c.2185+14764A>G ENSP00000506739.1:n.2185+14764A>G
ENST00000683270.1:c.4846A>G ENSP00000507624.1:p.Lys1616Glu
ENST00000683367.1:c.2177-9537A>G ENSP00000507780.1:n.2177-9537A>G
ENST00000683489.1:c.2291+2564A>G ENSP00000508403.1:n.2291+2564A>G
ENST00000683680.1:c.2318+2564A>G ENSP00000507223.1:n.2318+2564A>G
ENST00000684163.1:c.2203+7790A>G ENSP00000508262.1:n.2203+7790A>G
ENST00000684196.1:n.4543-9537A>G
ENST00000684325.1:c.2185+14764A>G ENSP00000508121.1:n.2185+14764A>G
ENST00000684385.1:c.2220+7790A>G ENSP00000507855.1:n.2220+7790A>G
ENST00000684497.1:c.2185+14764A>G ENSP00000507057.1:n.2185+14764A>G
ENST00000382292.9:c.4855A>G MANE Select ENSP00000371729.3:p.Lys1619Glu
ENST00000423156.2:c.2186-9537A>G ENSP00000390925.2:n.2186-9537A>G
ENST00000455470.6:c.2431+2424A>G ENSP00000406565.2:n.2431+2424A>G
ENST00000382292.7:c.4855A>G ENSP00000371729.3:p.Lys1619Glu
ENST00000382298.7:c.4855A>G ENSP00000371735.3:p.Lys1619Glu
ENST00000402364.1:c.2605A>G ENSP00000385844.1:p.Lys869Glu
ENST00000423156.1:c.1058-9537A>G ENSP00000390925.1:n.1058-9537A>G
ENST00000455470.5:c.2129+2424A>G
NM_001278055.1:c.4414A>G NP_001264984.1:p.Lys1472Glu
NM_014363.5:c.4855A>G NP_055178.3:p.Lys1619Glu
XM_005266338.1:c.4882A>G XP_005266395.1:p.Lys1628Glu
XM_011535038.1:c.4906A>G XP_011533340.1:p.Lys1636Glu
XM_011535039.1:c.4873A>G XP_011533341.1:p.Lys1625Glu
XM_005266338.2:c.4882A>G XP_005266395.1:p.Lys1628Glu
XM_011535039.2:c.4873A>G XP_011533341.1:p.Lys1625Glu
XM_017020539.1:c.4846A>G XP_016876028.1:p.Lys1616Glu
XM_024449337.1:c.4882A>G XP_024305105.1:p.Lys1628Glu
NM_014363.6:c.4855A>G MANE Select NP_055178.3:p.Lys1619Glu
NM_001278055.2:c.4414A>G NP_001264984.1:p.Lys1472Glu