Canonical Allele Identifier: CA6910119
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 235607
dbSNP Id: rs35799469

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23331227T>C , CM000675.2:g.23331227T>C GRCh38
NC_000013.10:g.23905366T>C , CM000675.1:g.23905366T>C GRCh37
NC_000013.9:g.22803366T>C NCBI36
NG_012342.1:g.107476A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2186-19112A>G ENSP00000508399.1:n.2186-19112A>G
ENST00000682944.1:c.12676A>G ENSP00000507173.1:p.Asn4226Asp
ENST00000683210.1:c.2185+22558A>G ENSP00000506739.1:n.2185+22558A>G
ENST00000683270.1:c.6446-1743A>G ENSP00000507624.1:n.6446-1743A>G
ENST00000683367.1:c.2177-1743A>G ENSP00000507780.1:n.2177-1743A>G
ENST00000683489.1:c.2292-1275A>G ENSP00000508403.1:n.2292-1275A>G
ENST00000683680.1:c.2319-1275A>G ENSP00000507223.1:n.2319-1275A>G
ENST00000684163.1:c.2204-1743A>G ENSP00000508262.1:n.2204-1743A>G
ENST00000684196.1:n.4543-1743A>G
ENST00000684325.1:c.2186-9553A>G ENSP00000508121.1:n.2186-9553A>G
ENST00000684385.1:c.2221-1743A>G ENSP00000507855.1:n.2221-1743A>G
ENST00000684497.1:c.2186-8583A>G ENSP00000507057.1:n.2186-8583A>G
ENST00000382292.9:c.12649A>G MANE Select ENSP00000371729.3:p.Asn4217Asp
ENST00000423156.2:c.2186-1743A>G ENSP00000390925.2:n.2186-1743A>G
ENST00000455470.6:c.2432-1743A>G ENSP00000406565.2:n.2432-1743A>G
ENST00000382292.7:c.12649A>G ENSP00000371729.3:p.Asn4217Asp
ENST00000382298.7:c.12649A>G ENSP00000371735.3:p.Asn4217Asp
ENST00000402364.1:c.10399A>G ENSP00000385844.1:p.Asn3467Asp
ENST00000423156.1:c.1058-1743A>G ENSP00000390925.1:n.1058-1743A>G
ENST00000455470.5:c.2130-1743A>G
NM_001278055.1:c.12208A>G NP_001264984.1:p.Asn4070Asp
NM_014363.5:c.12649A>G NP_055178.3:p.Asn4217Asp
XM_005266338.1:c.12676A>G XP_005266395.1:p.Asn4226Asp
XM_011535038.1:c.12700A>G XP_011533340.1:p.Asn4234Asp
XM_011535039.1:c.12667A>G XP_011533341.1:p.Asn4223Asp
XM_005266338.2:c.12676A>G XP_005266395.1:p.Asn4226Asp
XM_011535039.2:c.12667A>G XP_011533341.1:p.Asn4223Asp
XM_017020539.1:c.12640A>G XP_016876028.1:p.Asn4214Asp
XM_024449337.1:c.12676A>G XP_024305105.1:p.Asn4226Asp
NM_014363.6:c.12649A>G MANE Select NP_055178.3:p.Asn4217Asp
NM_001278055.2:c.12208A>G NP_001264984.1:p.Asn4070Asp