Canonical Allele Identifier: CA387513396
Gene: SACS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23333968G>T , CM000675.2:g.23333968G>T GRCh38
NC_000013.10:g.23908107G>T , CM000675.1:g.23908107G>T GRCh37
NC_000013.9:g.22806107G>T NCBI36
NG_012342.1:g.104735C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+19817C>A ENSP00000508399.1:n.2185+19817C>A
ENST00000682944.1:c.9935C>A ENSP00000507173.1:p.Pro3312His
ENST00000683210.1:c.2185+19817C>A ENSP00000506739.1:n.2185+19817C>A
ENST00000683270.1:c.6445+3454C>A ENSP00000507624.1:n.6445+3454C>A
ENST00000683367.1:c.2177-4484C>A ENSP00000507780.1:n.2177-4484C>A
ENST00000683489.1:c.2292-4016C>A ENSP00000508403.1:n.2292-4016C>A
ENST00000683680.1:c.2319-4016C>A ENSP00000507223.1:n.2319-4016C>A
ENST00000684163.1:c.2204-4484C>A ENSP00000508262.1:n.2204-4484C>A
ENST00000684196.1:n.4543-4484C>A
ENST00000684325.1:c.2186-12294C>A ENSP00000508121.1:n.2186-12294C>A
ENST00000684385.1:c.2221-4484C>A ENSP00000507855.1:n.2221-4484C>A
ENST00000684497.1:c.2186-11324C>A ENSP00000507057.1:n.2186-11324C>A
ENST00000382292.9:c.9908C>A MANE Select ENSP00000371729.3:p.Pro3303His
ENST00000423156.2:c.2186-4484C>A ENSP00000390925.2:n.2186-4484C>A
ENST00000455470.6:c.2432-4484C>A ENSP00000406565.2:n.2432-4484C>A
ENST00000382292.7:c.9908C>A ENSP00000371729.3:p.Pro3303His
ENST00000382298.7:c.9908C>A ENSP00000371735.3:p.Pro3303His
ENST00000402364.1:c.7658C>A ENSP00000385844.1:p.Pro2553His
ENST00000423156.1:c.1058-4484C>A ENSP00000390925.1:n.1058-4484C>A
ENST00000455470.5:c.2130-4484C>A
NM_001278055.1:c.9467C>A NP_001264984.1:p.Pro3156His
NM_014363.5:c.9908C>A NP_055178.3:p.Pro3303His
XM_005266338.1:c.9935C>A XP_005266395.1:p.Pro3312His
XM_011535038.1:c.9959C>A XP_011533340.1:p.Pro3320His
XM_011535039.1:c.9926C>A XP_011533341.1:p.Pro3309His
XM_005266338.2:c.9935C>A XP_005266395.1:p.Pro3312His
XM_011535039.2:c.9926C>A XP_011533341.1:p.Pro3309His
XM_017020539.1:c.9899C>A XP_016876028.1:p.Pro3300His
XM_024449337.1:c.9935C>A XP_024305105.1:p.Pro3312His
NM_014363.6:c.9908C>A MANE Select NP_055178.3:p.Pro3303His
NM_001278055.2:c.9467C>A NP_001264984.1:p.Pro3156His