Canonical Allele Identifier: CA483159960

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23909165A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23335026A>G , CM000675.2:g.23335026A>G	GRCh38
NC_000013.10:g.23909165A>G , CM000675.1:g.23909165A>G	GRCh37
NC_000013.9:g.22807165A>G	NCBI36
NG_012342.1:g.103677T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+18759T>C	ENSP00000508399.1:n.2185+18759T>C
ENST00000682944.1:c.8877T>C	ENSP00000507173.1:p.His2959=
ENST00000683210.1:c.2185+18759T>C	ENSP00000506739.1:n.2185+18759T>C
ENST00000683270.1:c.6445+2396T>C	ENSP00000507624.1:n.6445+2396T>C
ENST00000683367.1:c.2177-5542T>C	ENSP00000507780.1:n.2177-5542T>C
ENST00000683489.1:c.2292-5074T>C	ENSP00000508403.1:n.2292-5074T>C
ENST00000683680.1:c.2319-5074T>C	ENSP00000507223.1:n.2319-5074T>C
ENST00000684163.1:c.2204-5542T>C	ENSP00000508262.1:n.2204-5542T>C
ENST00000684196.1:n.4543-5542T>C
ENST00000684325.1:c.2186-13352T>C	ENSP00000508121.1:n.2186-13352T>C
ENST00000684385.1:c.2221-5542T>C	ENSP00000507855.1:n.2221-5542T>C
ENST00000684497.1:c.2186-12382T>C	ENSP00000507057.1:n.2186-12382T>C
ENST00000382292.9:c.8850T>C MANE Select	ENSP00000371729.3:p.His2950=
ENST00000423156.2:c.2186-5542T>C	ENSP00000390925.2:n.2186-5542T>C
ENST00000455470.6:c.2432-5542T>C	ENSP00000406565.2:n.2432-5542T>C
ENST00000382292.7:c.8850T>C	ENSP00000371729.3:p.His2950=
ENST00000382298.7:c.8850T>C	ENSP00000371735.3:p.His2950=
ENST00000402364.1:c.6600T>C	ENSP00000385844.1:p.His2200=
ENST00000423156.1:c.1058-5542T>C	ENSP00000390925.1:n.1058-5542T>C
ENST00000455470.5:c.2130-5542T>C
NM_001278055.1:c.8409T>C	NP_001264984.1:p.His2803=
NM_014363.5:c.8850T>C	NP_055178.3:p.His2950=
XM_005266338.1:c.8877T>C	XP_005266395.1:p.His2959=
XM_011535038.1:c.8901T>C	XP_011533340.1:p.His2967=
XM_011535039.1:c.8868T>C	XP_011533341.1:p.His2956=
XM_005266338.2:c.8877T>C	XP_005266395.1:p.His2959=
XM_011535039.2:c.8868T>C	XP_011533341.1:p.His2956=
XM_017020539.1:c.8841T>C	XP_016876028.1:p.His2947=
XM_024449337.1:c.8877T>C	XP_024305105.1:p.His2959=
NM_014363.6:c.8850T>C MANE Select	NP_055178.3:p.His2950=
NM_001278055.2:c.8409T>C	NP_001264984.1:p.His2803=