Canonical Allele Identifier: CA483157779
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 1128916
ClinVar RCV Id: RCV001461875
dbSNP Id: rs2137553613
MyVariant Identifiers: chr13:g.23905094T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23330955T>C , CM000675.2:g.23330955T>C GRCh38
NC_000013.10:g.23905094T>C , CM000675.1:g.23905094T>C GRCh37
NC_000013.9:g.22803094T>C NCBI36
NG_012342.1:g.107748A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2186-18840A>G ENSP00000508399.1:n.2186-18840A>G
ENST00000682944.1:c.12948A>G ENSP00000507173.1:p.Leu4316=
ENST00000683210.1:c.2185+22830A>G ENSP00000506739.1:n.2185+22830A>G
ENST00000683270.1:c.6446-1471A>G ENSP00000507624.1:n.6446-1471A>G
ENST00000683367.1:c.2177-1471A>G ENSP00000507780.1:n.2177-1471A>G
ENST00000683489.1:c.2292-1003A>G ENSP00000508403.1:n.2292-1003A>G
ENST00000683680.1:c.2319-1003A>G ENSP00000507223.1:n.2319-1003A>G
ENST00000684163.1:c.2204-1471A>G ENSP00000508262.1:n.2204-1471A>G
ENST00000684196.1:n.4543-1471A>G
ENST00000684325.1:c.2186-9281A>G ENSP00000508121.1:n.2186-9281A>G
ENST00000684385.1:c.2221-1471A>G ENSP00000507855.1:n.2221-1471A>G
ENST00000684497.1:c.2186-8311A>G ENSP00000507057.1:n.2186-8311A>G
ENST00000382292.9:c.12921A>G MANE Select ENSP00000371729.3:p.Leu4307=
ENST00000423156.2:c.2186-1471A>G ENSP00000390925.2:n.2186-1471A>G
ENST00000455470.6:c.2432-1471A>G ENSP00000406565.2:n.2432-1471A>G
ENST00000382292.7:c.12921A>G ENSP00000371729.3:p.Leu4307=
ENST00000382298.7:c.12921A>G ENSP00000371735.3:p.Leu4307=
ENST00000402364.1:c.10671A>G ENSP00000385844.1:p.Leu3557=
ENST00000423156.1:c.1058-1471A>G ENSP00000390925.1:n.1058-1471A>G
ENST00000455470.5:c.2130-1471A>G
NM_001278055.1:c.12480A>G NP_001264984.1:p.Leu4160=
NM_014363.5:c.12921A>G NP_055178.3:p.Leu4307=
XM_005266338.1:c.12948A>G XP_005266395.1:p.Leu4316=
XM_011535038.1:c.12972A>G XP_011533340.1:p.Leu4324=
XM_011535039.1:c.12939A>G XP_011533341.1:p.Leu4313=
XM_005266338.2:c.12948A>G XP_005266395.1:p.Leu4316=
XM_011535039.2:c.12939A>G XP_011533341.1:p.Leu4313=
XM_017020539.1:c.12912A>G XP_016876028.1:p.Leu4304=
XM_024449337.1:c.12948A>G XP_024305105.1:p.Leu4316=
NM_014363.6:c.12921A>G MANE Select NP_055178.3:p.Leu4307=
NM_001278055.2:c.12480A>G NP_001264984.1:p.Leu4160=