Canonical Allele Identifier: CA16603310
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 377231
ClinVar RCV Id: RCV000425608
dbSNP Id: rs765626875

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23337364G>C , CM000675.2:g.23337364G>C GRCh38
NC_000013.10:g.23911503G>C , CM000675.1:g.23911503G>C GRCh37
NC_000013.9:g.22809503G>C NCBI36
NG_012342.1:g.101339C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+16421C>G ENSP00000508399.1:n.2185+16421C>G
ENST00000682944.1:c.6539C>G ENSP00000507173.1:p.Ala2180Gly
ENST00000683210.1:c.2185+16421C>G ENSP00000506739.1:n.2185+16421C>G
ENST00000683270.1:c.6445+58C>G ENSP00000507624.1:n.6445+58C>G
ENST00000683367.1:c.2177-7880C>G ENSP00000507780.1:n.2177-7880C>G
ENST00000683489.1:c.2291+4221C>G ENSP00000508403.1:n.2291+4221C>G
ENST00000683680.1:c.2318+4221C>G ENSP00000507223.1:n.2318+4221C>G
ENST00000684163.1:c.2204-7880C>G ENSP00000508262.1:n.2204-7880C>G
ENST00000684196.1:n.4543-7880C>G
ENST00000684325.1:c.2186-15690C>G ENSP00000508121.1:n.2186-15690C>G
ENST00000684385.1:c.2221-7880C>G ENSP00000507855.1:n.2221-7880C>G
ENST00000684497.1:c.2186-14720C>G ENSP00000507057.1:n.2186-14720C>G
ENST00000382292.9:c.6512C>G MANE Select ENSP00000371729.3:p.Ala2171Gly
ENST00000423156.2:c.2186-7880C>G ENSP00000390925.2:n.2186-7880C>G
ENST00000455470.6:c.2431+4081C>G ENSP00000406565.2:n.2431+4081C>G
ENST00000382292.7:c.6512C>G ENSP00000371729.3:p.Ala2171Gly
ENST00000382298.7:c.6512C>G ENSP00000371735.3:p.Ala2171Gly
ENST00000402364.1:c.4262C>G ENSP00000385844.1:p.Ala1421Gly
ENST00000423156.1:c.1058-7880C>G ENSP00000390925.1:n.1058-7880C>G
ENST00000455470.5:c.2129+4081C>G
NM_001278055.1:c.6071C>G NP_001264984.1:p.Ala2024Gly
NM_014363.5:c.6512C>G NP_055178.3:p.Ala2171Gly
XM_005266338.1:c.6539C>G XP_005266395.1:p.Ala2180Gly
XM_011535038.1:c.6563C>G XP_011533340.1:p.Ala2188Gly
XM_011535039.1:c.6530C>G XP_011533341.1:p.Ala2177Gly
XM_005266338.2:c.6539C>G XP_005266395.1:p.Ala2180Gly
XM_011535039.2:c.6530C>G XP_011533341.1:p.Ala2177Gly
XM_017020539.1:c.6503C>G XP_016876028.1:p.Ala2168Gly
XM_024449337.1:c.6539C>G XP_024305105.1:p.Ala2180Gly
NM_014363.6:c.6512C>G MANE Select NP_055178.3:p.Ala2171Gly
NM_001278055.2:c.6071C>G NP_001264984.1:p.Ala2024Gly