Canonical Allele Identifier: CA483159931

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23909138A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334999A>G , CM000675.2:g.23334999A>G	GRCh38
NC_000013.10:g.23909138A>G , CM000675.1:g.23909138A>G	GRCh37
NC_000013.9:g.22807138A>G	NCBI36
NG_012342.1:g.103704T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+18786T>C	ENSP00000508399.1:n.2185+18786T>C
ENST00000682944.1:c.8904T>C	ENSP00000507173.1:p.Phe2968=
ENST00000683210.1:c.2185+18786T>C	ENSP00000506739.1:n.2185+18786T>C
ENST00000683270.1:c.6445+2423T>C	ENSP00000507624.1:n.6445+2423T>C
ENST00000683367.1:c.2177-5515T>C	ENSP00000507780.1:n.2177-5515T>C
ENST00000683489.1:c.2292-5047T>C	ENSP00000508403.1:n.2292-5047T>C
ENST00000683680.1:c.2319-5047T>C	ENSP00000507223.1:n.2319-5047T>C
ENST00000684163.1:c.2204-5515T>C	ENSP00000508262.1:n.2204-5515T>C
ENST00000684196.1:n.4543-5515T>C
ENST00000684325.1:c.2186-13325T>C	ENSP00000508121.1:n.2186-13325T>C
ENST00000684385.1:c.2221-5515T>C	ENSP00000507855.1:n.2221-5515T>C
ENST00000684497.1:c.2186-12355T>C	ENSP00000507057.1:n.2186-12355T>C
ENST00000382292.9:c.8877T>C MANE Select	ENSP00000371729.3:p.Phe2959=
ENST00000423156.2:c.2186-5515T>C	ENSP00000390925.2:n.2186-5515T>C
ENST00000455470.6:c.2432-5515T>C	ENSP00000406565.2:n.2432-5515T>C
ENST00000382292.7:c.8877T>C	ENSP00000371729.3:p.Phe2959=
ENST00000382298.7:c.8877T>C	ENSP00000371735.3:p.Phe2959=
ENST00000402364.1:c.6627T>C	ENSP00000385844.1:p.Phe2209=
ENST00000423156.1:c.1058-5515T>C	ENSP00000390925.1:n.1058-5515T>C
ENST00000455470.5:c.2130-5515T>C
NM_001278055.1:c.8436T>C	NP_001264984.1:p.Phe2812=
NM_014363.5:c.8877T>C	NP_055178.3:p.Phe2959=
XM_005266338.1:c.8904T>C	XP_005266395.1:p.Phe2968=
XM_011535038.1:c.8928T>C	XP_011533340.1:p.Phe2976=
XM_011535039.1:c.8895T>C	XP_011533341.1:p.Phe2965=
XM_005266338.2:c.8904T>C	XP_005266395.1:p.Phe2968=
XM_011535039.2:c.8895T>C	XP_011533341.1:p.Phe2965=
XM_017020539.1:c.8868T>C	XP_016876028.1:p.Phe2956=
XM_024449337.1:c.8904T>C	XP_024305105.1:p.Phe2968=
NM_014363.6:c.8877T>C MANE Select	NP_055178.3:p.Phe2959=
NM_001278055.2:c.8436T>C	NP_001264984.1:p.Phe2812=