Canonical Allele Identifier: CA483163041
Gene: SACS HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.23913884T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23339745T>C , CM000675.2:g.23339745T>C GRCh38
NC_000013.10:g.23913884T>C , CM000675.1:g.23913884T>C GRCh37
NC_000013.9:g.22811884T>C NCBI36
NG_012342.1:g.98958A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+14040A>G ENSP00000508399.1:n.2185+14040A>G
ENST00000682944.1:c.4158A>G ENSP00000507173.1:p.Thr1386=
ENST00000683210.1:c.2185+14040A>G ENSP00000506739.1:n.2185+14040A>G
ENST00000683270.1:c.4122A>G ENSP00000507624.1:p.Thr1374=
ENST00000683367.1:c.2177-10261A>G ENSP00000507780.1:n.2177-10261A>G
ENST00000683489.1:c.2291+1840A>G ENSP00000508403.1:n.2291+1840A>G
ENST00000683680.1:c.2318+1840A>G ENSP00000507223.1:n.2318+1840A>G
ENST00000684163.1:c.2203+7066A>G ENSP00000508262.1:n.2203+7066A>G
ENST00000684196.1:n.4543-10261A>G
ENST00000684325.1:c.2185+14040A>G ENSP00000508121.1:n.2185+14040A>G
ENST00000684385.1:c.2220+7066A>G ENSP00000507855.1:n.2220+7066A>G
ENST00000684497.1:c.2185+14040A>G ENSP00000507057.1:n.2185+14040A>G
ENST00000382292.9:c.4131A>G MANE Select ENSP00000371729.3:p.Thr1377=
ENST00000423156.2:c.2186-10261A>G ENSP00000390925.2:n.2186-10261A>G
ENST00000455470.6:c.2431+1700A>G ENSP00000406565.2:n.2431+1700A>G
ENST00000382292.7:c.4131A>G ENSP00000371729.3:p.Thr1377=
ENST00000382298.7:c.4131A>G ENSP00000371735.3:p.Thr1377=
ENST00000402364.1:c.1881A>G ENSP00000385844.1:p.Thr627=
ENST00000423156.1:c.1058-10261A>G ENSP00000390925.1:n.1058-10261A>G
ENST00000455470.5:c.2129+1700A>G
NM_001278055.1:c.3690A>G NP_001264984.1:p.Thr1230=
NM_014363.5:c.4131A>G NP_055178.3:p.Thr1377=
XM_005266338.1:c.4158A>G XP_005266395.1:p.Thr1386=
XM_011535038.1:c.4182A>G XP_011533340.1:p.Thr1394=
XM_011535039.1:c.4149A>G XP_011533341.1:p.Thr1383=
XM_005266338.2:c.4158A>G XP_005266395.1:p.Thr1386=
XM_011535039.2:c.4149A>G XP_011533341.1:p.Thr1383=
XM_017020539.1:c.4122A>G XP_016876028.1:p.Thr1374=
XM_024449337.1:c.4158A>G XP_024305105.1:p.Thr1386=
NM_014363.6:c.4131A>G MANE Select NP_055178.3:p.Thr1377=
NM_001278055.2:c.3690A>G NP_001264984.1:p.Thr1230=