Canonical Allele Identifier: CA483158861
Gene: SACS HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.23908004G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23333865G>T , CM000675.2:g.23333865G>T GRCh38
NC_000013.10:g.23908004G>T , CM000675.1:g.23908004G>T GRCh37
NC_000013.9:g.22806004G>T NCBI36
NG_012342.1:g.104838C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+19920C>A ENSP00000508399.1:n.2185+19920C>A
ENST00000682944.1:c.10038C>A ENSP00000507173.1:p.Ile3346=
ENST00000683210.1:c.2185+19920C>A ENSP00000506739.1:n.2185+19920C>A
ENST00000683270.1:c.6445+3557C>A ENSP00000507624.1:n.6445+3557C>A
ENST00000683367.1:c.2177-4381C>A ENSP00000507780.1:n.2177-4381C>A
ENST00000683489.1:c.2292-3913C>A ENSP00000508403.1:n.2292-3913C>A
ENST00000683680.1:c.2319-3913C>A ENSP00000507223.1:n.2319-3913C>A
ENST00000684163.1:c.2204-4381C>A ENSP00000508262.1:n.2204-4381C>A
ENST00000684196.1:n.4543-4381C>A
ENST00000684325.1:c.2186-12191C>A ENSP00000508121.1:n.2186-12191C>A
ENST00000684385.1:c.2221-4381C>A ENSP00000507855.1:n.2221-4381C>A
ENST00000684497.1:c.2186-11221C>A ENSP00000507057.1:n.2186-11221C>A
ENST00000382292.9:c.10011C>A MANE Select ENSP00000371729.3:p.Ile3337=
ENST00000423156.2:c.2186-4381C>A ENSP00000390925.2:n.2186-4381C>A
ENST00000455470.6:c.2432-4381C>A ENSP00000406565.2:n.2432-4381C>A
ENST00000382292.7:c.10011C>A ENSP00000371729.3:p.Ile3337=
ENST00000382298.7:c.10011C>A ENSP00000371735.3:p.Ile3337=
ENST00000402364.1:c.7761C>A ENSP00000385844.1:p.Ile2587=
ENST00000423156.1:c.1058-4381C>A ENSP00000390925.1:n.1058-4381C>A
ENST00000455470.5:c.2130-4381C>A
NM_001278055.1:c.9570C>A NP_001264984.1:p.Ile3190=
NM_014363.5:c.10011C>A NP_055178.3:p.Ile3337=
XM_005266338.1:c.10038C>A XP_005266395.1:p.Ile3346=
XM_011535038.1:c.10062C>A XP_011533340.1:p.Ile3354=
XM_011535039.1:c.10029C>A XP_011533341.1:p.Ile3343=
XM_005266338.2:c.10038C>A XP_005266395.1:p.Ile3346=
XM_011535039.2:c.10029C>A XP_011533341.1:p.Ile3343=
XM_017020539.1:c.10002C>A XP_016876028.1:p.Ile3334=
XM_024449337.1:c.10038C>A XP_024305105.1:p.Ile3346=
NM_014363.6:c.10011C>A MANE Select NP_055178.3:p.Ile3337=
NM_001278055.2:c.9570C>A NP_001264984.1:p.Ile3190=