Canonical Allele Identifier: CA483161064

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23910593T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336454T>G , CM000675.2:g.23336454T>G	GRCh38
NC_000013.10:g.23910593T>G , CM000675.1:g.23910593T>G	GRCh37
NC_000013.9:g.22808593T>G	NCBI36
NG_012342.1:g.102249A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+17331A>C	ENSP00000508399.1:n.2185+17331A>C
ENST00000682944.1:c.7449A>C	ENSP00000507173.1:p.Ile2483=
ENST00000683210.1:c.2185+17331A>C	ENSP00000506739.1:n.2185+17331A>C
ENST00000683270.1:c.6445+968A>C	ENSP00000507624.1:n.6445+968A>C
ENST00000683367.1:c.2177-6970A>C	ENSP00000507780.1:n.2177-6970A>C
ENST00000683489.1:c.2291+5131A>C	ENSP00000508403.1:n.2291+5131A>C
ENST00000683680.1:c.2318+5131A>C	ENSP00000507223.1:n.2318+5131A>C
ENST00000684163.1:c.2204-6970A>C	ENSP00000508262.1:n.2204-6970A>C
ENST00000684196.1:n.4543-6970A>C
ENST00000684325.1:c.2186-14780A>C	ENSP00000508121.1:n.2186-14780A>C
ENST00000684385.1:c.2221-6970A>C	ENSP00000507855.1:n.2221-6970A>C
ENST00000684497.1:c.2186-13810A>C	ENSP00000507057.1:n.2186-13810A>C
ENST00000382292.9:c.7422A>C MANE Select	ENSP00000371729.3:p.Ile2474=
ENST00000423156.2:c.2186-6970A>C	ENSP00000390925.2:n.2186-6970A>C
ENST00000455470.6:c.2431+4991A>C	ENSP00000406565.2:n.2431+4991A>C
ENST00000382292.7:c.7422A>C	ENSP00000371729.3:p.Ile2474=
ENST00000382298.7:c.7422A>C	ENSP00000371735.3:p.Ile2474=
ENST00000402364.1:c.5172A>C	ENSP00000385844.1:p.Ile1724=
ENST00000423156.1:c.1058-6970A>C	ENSP00000390925.1:n.1058-6970A>C
ENST00000455470.5:c.2129+4991A>C
NM_001278055.1:c.6981A>C	NP_001264984.1:p.Ile2327=
NM_014363.5:c.7422A>C	NP_055178.3:p.Ile2474=
XM_005266338.1:c.7449A>C	XP_005266395.1:p.Ile2483=
XM_011535038.1:c.7473A>C	XP_011533340.1:p.Ile2491=
XM_011535039.1:c.7440A>C	XP_011533341.1:p.Ile2480=
XM_005266338.2:c.7449A>C	XP_005266395.1:p.Ile2483=
XM_011535039.2:c.7440A>C	XP_011533341.1:p.Ile2480=
XM_017020539.1:c.7413A>C	XP_016876028.1:p.Ile2471=
XM_024449337.1:c.7449A>C	XP_024305105.1:p.Ile2483=
NM_014363.6:c.7422A>C MANE Select	NP_055178.3:p.Ile2474=
NM_001278055.2:c.6981A>C	NP_001264984.1:p.Ile2327=