Canonical Allele Identifier: CA483160853
Gene: SACS HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.23910500G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23336361G>C , CM000675.2:g.23336361G>C GRCh38
NC_000013.10:g.23910500G>C , CM000675.1:g.23910500G>C GRCh37
NC_000013.9:g.22808500G>C NCBI36
NG_012342.1:g.102342C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+17424C>G ENSP00000508399.1:n.2185+17424C>G
ENST00000682944.1:c.7542C>G ENSP00000507173.1:p.Ala2514=
ENST00000683210.1:c.2185+17424C>G ENSP00000506739.1:n.2185+17424C>G
ENST00000683270.1:c.6445+1061C>G ENSP00000507624.1:n.6445+1061C>G
ENST00000683367.1:c.2177-6877C>G ENSP00000507780.1:n.2177-6877C>G
ENST00000683489.1:c.2291+5224C>G ENSP00000508403.1:n.2291+5224C>G
ENST00000683680.1:c.2318+5224C>G ENSP00000507223.1:n.2318+5224C>G
ENST00000684163.1:c.2204-6877C>G ENSP00000508262.1:n.2204-6877C>G
ENST00000684196.1:n.4543-6877C>G
ENST00000684325.1:c.2186-14687C>G ENSP00000508121.1:n.2186-14687C>G
ENST00000684385.1:c.2221-6877C>G ENSP00000507855.1:n.2221-6877C>G
ENST00000684497.1:c.2186-13717C>G ENSP00000507057.1:n.2186-13717C>G
ENST00000382292.9:c.7515C>G MANE Select ENSP00000371729.3:p.Ala2505=
ENST00000423156.2:c.2186-6877C>G ENSP00000390925.2:n.2186-6877C>G
ENST00000455470.6:c.2431+5084C>G ENSP00000406565.2:n.2431+5084C>G
ENST00000382292.7:c.7515C>G ENSP00000371729.3:p.Ala2505=
ENST00000382298.7:c.7515C>G ENSP00000371735.3:p.Ala2505=
ENST00000402364.1:c.5265C>G ENSP00000385844.1:p.Ala1755=
ENST00000423156.1:c.1058-6877C>G ENSP00000390925.1:n.1058-6877C>G
ENST00000455470.5:c.2129+5084C>G
NM_001278055.1:c.7074C>G NP_001264984.1:p.Ala2358=
NM_014363.5:c.7515C>G NP_055178.3:p.Ala2505=
XM_005266338.1:c.7542C>G XP_005266395.1:p.Ala2514=
XM_011535038.1:c.7566C>G XP_011533340.1:p.Ala2522=
XM_011535039.1:c.7533C>G XP_011533341.1:p.Ala2511=
XM_005266338.2:c.7542C>G XP_005266395.1:p.Ala2514=
XM_011535039.2:c.7533C>G XP_011533341.1:p.Ala2511=
XM_017020539.1:c.7506C>G XP_016876028.1:p.Ala2502=
XM_024449337.1:c.7542C>G XP_024305105.1:p.Ala2514=
NM_014363.6:c.7515C>G MANE Select NP_055178.3:p.Ala2505=
NM_001278055.2:c.7074C>G NP_001264984.1:p.Ala2358=