Canonical Allele Identifier: CA483162877

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23913455A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23339316A>G , CM000675.2:g.23339316A>G	GRCh38
NC_000013.10:g.23913455A>G , CM000675.1:g.23913455A>G	GRCh37
NC_000013.9:g.22811455A>G	NCBI36
NG_012342.1:g.99387T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+14469T>C	ENSP00000508399.1:n.2185+14469T>C
ENST00000682944.1:c.4587T>C	ENSP00000507173.1:p.Pro1529=
ENST00000683210.1:c.2185+14469T>C	ENSP00000506739.1:n.2185+14469T>C
ENST00000683270.1:c.4551T>C	ENSP00000507624.1:p.Pro1517=
ENST00000683367.1:c.2177-9832T>C	ENSP00000507780.1:n.2177-9832T>C
ENST00000683489.1:c.2291+2269T>C	ENSP00000508403.1:n.2291+2269T>C
ENST00000683680.1:c.2318+2269T>C	ENSP00000507223.1:n.2318+2269T>C
ENST00000684163.1:c.2203+7495T>C	ENSP00000508262.1:n.2203+7495T>C
ENST00000684196.1:n.4543-9832T>C
ENST00000684325.1:c.2185+14469T>C	ENSP00000508121.1:n.2185+14469T>C
ENST00000684385.1:c.2220+7495T>C	ENSP00000507855.1:n.2220+7495T>C
ENST00000684497.1:c.2185+14469T>C	ENSP00000507057.1:n.2185+14469T>C
ENST00000382292.9:c.4560T>C MANE Select	ENSP00000371729.3:p.Pro1520=
ENST00000423156.2:c.2186-9832T>C	ENSP00000390925.2:n.2186-9832T>C
ENST00000455470.6:c.2431+2129T>C	ENSP00000406565.2:n.2431+2129T>C
ENST00000382292.7:c.4560T>C	ENSP00000371729.3:p.Pro1520=
ENST00000382298.7:c.4560T>C	ENSP00000371735.3:p.Pro1520=
ENST00000402364.1:c.2310T>C	ENSP00000385844.1:p.Pro770=
ENST00000423156.1:c.1058-9832T>C	ENSP00000390925.1:n.1058-9832T>C
ENST00000455470.5:c.2129+2129T>C
NM_001278055.1:c.4119T>C	NP_001264984.1:p.Pro1373=
NM_014363.5:c.4560T>C	NP_055178.3:p.Pro1520=
XM_005266338.1:c.4587T>C	XP_005266395.1:p.Pro1529=
XM_011535038.1:c.4611T>C	XP_011533340.1:p.Pro1537=
XM_011535039.1:c.4578T>C	XP_011533341.1:p.Pro1526=
XM_005266338.2:c.4587T>C	XP_005266395.1:p.Pro1529=
XM_011535039.2:c.4578T>C	XP_011533341.1:p.Pro1526=
XM_017020539.1:c.4551T>C	XP_016876028.1:p.Pro1517=
XM_024449337.1:c.4587T>C	XP_024305105.1:p.Pro1529=
NM_014363.6:c.4560T>C MANE Select	NP_055178.3:p.Pro1520=
NM_001278055.2:c.4119T>C	NP_001264984.1:p.Pro1373=