Canonical Allele Identifier: CA483162015
Gene: SACS HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.23912513C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23338374C>A , CM000675.2:g.23338374C>A GRCh38
NC_000013.10:g.23912513C>A , CM000675.1:g.23912513C>A GRCh37
NC_000013.9:g.22810513C>A NCBI36
NG_012342.1:g.100329G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+15411G>T ENSP00000508399.1:n.2185+15411G>T
ENST00000682944.1:c.5529G>T ENSP00000507173.1:p.Leu1843=
ENST00000683210.1:c.2185+15411G>T ENSP00000506739.1:n.2185+15411G>T
ENST00000683270.1:c.5493G>T ENSP00000507624.1:p.Leu1831=
ENST00000683367.1:c.2177-8890G>T ENSP00000507780.1:n.2177-8890G>T
ENST00000683489.1:c.2291+3211G>T ENSP00000508403.1:n.2291+3211G>T
ENST00000683680.1:c.2318+3211G>T ENSP00000507223.1:n.2318+3211G>T
ENST00000684163.1:c.2203+8437G>T ENSP00000508262.1:n.2203+8437G>T
ENST00000684196.1:n.4543-8890G>T
ENST00000684325.1:c.2185+15411G>T ENSP00000508121.1:n.2185+15411G>T
ENST00000684385.1:c.2220+8437G>T ENSP00000507855.1:n.2220+8437G>T
ENST00000684497.1:c.2185+15411G>T ENSP00000507057.1:n.2185+15411G>T
ENST00000382292.9:c.5502G>T MANE Select ENSP00000371729.3:p.Leu1834=
ENST00000423156.2:c.2186-8890G>T ENSP00000390925.2:n.2186-8890G>T
ENST00000455470.6:c.2431+3071G>T ENSP00000406565.2:n.2431+3071G>T
ENST00000382292.7:c.5502G>T ENSP00000371729.3:p.Leu1834=
ENST00000382298.7:c.5502G>T ENSP00000371735.3:p.Leu1834=
ENST00000402364.1:c.3252G>T ENSP00000385844.1:p.Leu1084=
ENST00000423156.1:c.1058-8890G>T ENSP00000390925.1:n.1058-8890G>T
ENST00000455470.5:c.2129+3071G>T
NM_001278055.1:c.5061G>T NP_001264984.1:p.Leu1687=
NM_014363.5:c.5502G>T NP_055178.3:p.Leu1834=
XM_005266338.1:c.5529G>T XP_005266395.1:p.Leu1843=
XM_011535038.1:c.5553G>T XP_011533340.1:p.Leu1851=
XM_011535039.1:c.5520G>T XP_011533341.1:p.Leu1840=
XM_005266338.2:c.5529G>T XP_005266395.1:p.Leu1843=
XM_011535039.2:c.5520G>T XP_011533341.1:p.Leu1840=
XM_017020539.1:c.5493G>T XP_016876028.1:p.Leu1831=
XM_024449337.1:c.5529G>T XP_024305105.1:p.Leu1843=
NM_014363.6:c.5502G>T MANE Select NP_055178.3:p.Leu1834=
NM_001278055.2:c.5061G>T NP_001264984.1:p.Leu1687=