Canonical Allele Identifier: CA387506209
Gene: SACS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23330866T>G , CM000675.2:g.23330866T>G GRCh38
NC_000013.10:g.23905005T>G , CM000675.1:g.23905005T>G GRCh37
NC_000013.9:g.22803005T>G NCBI36
NG_012342.1:g.107837A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2186-18751A>C ENSP00000508399.1:n.2186-18751A>C
ENST00000682944.1:c.13037A>C ENSP00000507173.1:p.His4346Pro
ENST00000683210.1:c.2185+22919A>C ENSP00000506739.1:n.2185+22919A>C
ENST00000683270.1:c.6446-1382A>C ENSP00000507624.1:n.6446-1382A>C
ENST00000683367.1:c.2177-1382A>C ENSP00000507780.1:n.2177-1382A>C
ENST00000683489.1:c.2292-914A>C ENSP00000508403.1:n.2292-914A>C
ENST00000683680.1:c.2319-914A>C ENSP00000507223.1:n.2319-914A>C
ENST00000684163.1:c.2204-1382A>C ENSP00000508262.1:n.2204-1382A>C
ENST00000684196.1:n.4543-1382A>C
ENST00000684325.1:c.2186-9192A>C ENSP00000508121.1:n.2186-9192A>C
ENST00000684385.1:c.2221-1382A>C ENSP00000507855.1:n.2221-1382A>C
ENST00000684497.1:c.2186-8222A>C ENSP00000507057.1:n.2186-8222A>C
ENST00000382292.9:c.13010A>C MANE Select ENSP00000371729.3:p.His4337Pro
ENST00000423156.2:c.2186-1382A>C ENSP00000390925.2:n.2186-1382A>C
ENST00000455470.6:c.2432-1382A>C ENSP00000406565.2:n.2432-1382A>C
ENST00000382292.7:c.13010A>C ENSP00000371729.3:p.His4337Pro
ENST00000382298.7:c.13010A>C ENSP00000371735.3:p.His4337Pro
ENST00000402364.1:c.10760A>C ENSP00000385844.1:p.His3587Pro
ENST00000423156.1:c.1058-1382A>C ENSP00000390925.1:n.1058-1382A>C
ENST00000455470.5:c.2130-1382A>C
NM_001278055.1:c.12569A>C NP_001264984.1:p.His4190Pro
NM_014363.5:c.13010A>C NP_055178.3:p.His4337Pro
XM_005266338.1:c.13037A>C XP_005266395.1:p.His4346Pro
XM_011535038.1:c.13061A>C XP_011533340.1:p.His4354Pro
XM_011535039.1:c.13028A>C XP_011533341.1:p.His4343Pro
XM_005266338.2:c.13037A>C XP_005266395.1:p.His4346Pro
XM_011535039.2:c.13028A>C XP_011533341.1:p.His4343Pro
XM_017020539.1:c.13001A>C XP_016876028.1:p.His4334Pro
XM_024449337.1:c.13037A>C XP_024305105.1:p.His4346Pro
NM_014363.6:c.13010A>C MANE Select NP_055178.3:p.His4337Pro
NM_001278055.2:c.12569A>C NP_001264984.1:p.His4190Pro