Canonical Allele Identifier: CA483160834
Gene: SACS HGNC NCBI

Linked Data

dbSNP Id: rs1310295857

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23336358T>C , CM000675.2:g.23336358T>C GRCh38
NC_000013.10:g.23910497T>C , CM000675.1:g.23910497T>C GRCh37
NC_000013.9:g.22808497T>C NCBI36
NG_012342.1:g.102345A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+17427A>G ENSP00000508399.1:n.2185+17427A>G
ENST00000682944.1:c.7545A>G ENSP00000507173.1:p.Leu2515=
ENST00000683210.1:c.2185+17427A>G ENSP00000506739.1:n.2185+17427A>G
ENST00000683270.1:c.6445+1064A>G ENSP00000507624.1:n.6445+1064A>G
ENST00000683367.1:c.2177-6874A>G ENSP00000507780.1:n.2177-6874A>G
ENST00000683489.1:c.2291+5227A>G ENSP00000508403.1:n.2291+5227A>G
ENST00000683680.1:c.2318+5227A>G ENSP00000507223.1:n.2318+5227A>G
ENST00000684163.1:c.2204-6874A>G ENSP00000508262.1:n.2204-6874A>G
ENST00000684196.1:n.4543-6874A>G
ENST00000684325.1:c.2186-14684A>G ENSP00000508121.1:n.2186-14684A>G
ENST00000684385.1:c.2221-6874A>G ENSP00000507855.1:n.2221-6874A>G
ENST00000684497.1:c.2186-13714A>G ENSP00000507057.1:n.2186-13714A>G
ENST00000382292.9:c.7518A>G MANE Select ENSP00000371729.3:p.Leu2506=
ENST00000423156.2:c.2186-6874A>G ENSP00000390925.2:n.2186-6874A>G
ENST00000455470.6:c.2431+5087A>G ENSP00000406565.2:n.2431+5087A>G
ENST00000382292.7:c.7518A>G ENSP00000371729.3:p.Leu2506=
ENST00000382298.7:c.7518A>G ENSP00000371735.3:p.Leu2506=
ENST00000402364.1:c.5268A>G ENSP00000385844.1:p.Leu1756=
ENST00000423156.1:c.1058-6874A>G ENSP00000390925.1:n.1058-6874A>G
ENST00000455470.5:c.2129+5087A>G
NM_001278055.1:c.7077A>G NP_001264984.1:p.Leu2359=
NM_014363.5:c.7518A>G NP_055178.3:p.Leu2506=
XM_005266338.1:c.7545A>G XP_005266395.1:p.Leu2515=
XM_011535038.1:c.7569A>G XP_011533340.1:p.Leu2523=
XM_011535039.1:c.7536A>G XP_011533341.1:p.Leu2512=
XM_005266338.2:c.7545A>G XP_005266395.1:p.Leu2515=
XM_011535039.2:c.7536A>G XP_011533341.1:p.Leu2512=
XM_017020539.1:c.7509A>G XP_016876028.1:p.Leu2503=
XM_024449337.1:c.7545A>G XP_024305105.1:p.Leu2515=
NM_014363.6:c.7518A>G MANE Select NP_055178.3:p.Leu2506=
NM_001278055.2:c.7077A>G NP_001264984.1:p.Leu2359=