Canonical Allele Identifier: CA483160435
Gene: SACS HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.23908835A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23334696A>G , CM000675.2:g.23334696A>G GRCh38
NC_000013.10:g.23908835A>G , CM000675.1:g.23908835A>G GRCh37
NC_000013.9:g.22806835A>G NCBI36
NG_012342.1:g.104007T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+19089T>C ENSP00000508399.1:n.2185+19089T>C
ENST00000682944.1:c.9207T>C ENSP00000507173.1:p.His3069=
ENST00000683210.1:c.2185+19089T>C ENSP00000506739.1:n.2185+19089T>C
ENST00000683270.1:c.6445+2726T>C ENSP00000507624.1:n.6445+2726T>C
ENST00000683367.1:c.2177-5212T>C ENSP00000507780.1:n.2177-5212T>C
ENST00000683489.1:c.2292-4744T>C ENSP00000508403.1:n.2292-4744T>C
ENST00000683680.1:c.2319-4744T>C ENSP00000507223.1:n.2319-4744T>C
ENST00000684163.1:c.2204-5212T>C ENSP00000508262.1:n.2204-5212T>C
ENST00000684196.1:n.4543-5212T>C
ENST00000684325.1:c.2186-13022T>C ENSP00000508121.1:n.2186-13022T>C
ENST00000684385.1:c.2221-5212T>C ENSP00000507855.1:n.2221-5212T>C
ENST00000684497.1:c.2186-12052T>C ENSP00000507057.1:n.2186-12052T>C
ENST00000382292.9:c.9180T>C MANE Select ENSP00000371729.3:p.His3060=
ENST00000423156.2:c.2186-5212T>C ENSP00000390925.2:n.2186-5212T>C
ENST00000455470.6:c.2432-5212T>C ENSP00000406565.2:n.2432-5212T>C
ENST00000382292.7:c.9180T>C ENSP00000371729.3:p.His3060=
ENST00000382298.7:c.9180T>C ENSP00000371735.3:p.His3060=
ENST00000402364.1:c.6930T>C ENSP00000385844.1:p.His2310=
ENST00000423156.1:c.1058-5212T>C ENSP00000390925.1:n.1058-5212T>C
ENST00000455470.5:c.2130-5212T>C
NM_001278055.1:c.8739T>C NP_001264984.1:p.His2913=
NM_014363.5:c.9180T>C NP_055178.3:p.His3060=
XM_005266338.1:c.9207T>C XP_005266395.1:p.His3069=
XM_011535038.1:c.9231T>C XP_011533340.1:p.His3077=
XM_011535039.1:c.9198T>C XP_011533341.1:p.His3066=
XM_005266338.2:c.9207T>C XP_005266395.1:p.His3069=
XM_011535039.2:c.9198T>C XP_011533341.1:p.His3066=
XM_017020539.1:c.9171T>C XP_016876028.1:p.His3057=
XM_024449337.1:c.9207T>C XP_024305105.1:p.His3069=
NM_014363.6:c.9180T>C MANE Select NP_055178.3:p.His3060=
NM_001278055.2:c.8739T>C NP_001264984.1:p.His2913=