Canonical Allele Identifier: CA482925356

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23371090A>G , CM000675.2:g.23371090A>G	GRCh38
NC_000013.10:g.23945229A>G , CM000675.1:g.23945229A>G	GRCh37
NC_000013.9:g.22843229A>G	NCBI36
NG_012342.1:g.67613T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014363.6:c.247T>C MANE Select	NP_055178.3:p.Leu83=
ENST00000382292.9:c.247T>C MANE Select	ENSP00000371729.3:p.Leu83=
NM_001278055.1:c.-182-2603T>C	NP_001264984.1:n.-182-2603T>C
NM_001278055.2:c.-182-2603T>C	NP_001264984.1:n.-182-2603T>C
NM_014363.5:c.247T>C	NP_055178.3:p.Leu83=
ENST00000382292.7:c.247T>C	ENSP00000371729.3:p.Leu83=
ENST00000382298.7:c.247T>C	ENSP00000371735.3:p.Leu83=
ENST00000402364.1:c.-1991-2603T>C	ENSP00000385844.1:n.-1991-2603T>C
ENST00000423156.2:c.247T>C	ENSP00000390925.2:p.Leu83=
ENST00000455470.6:c.247T>C	ENSP00000406565.2:p.Leu83=
ENST00000682244.1:n.820T>C
ENST00000682547.1:c.209-2603T>C	ENSP00000507735.1:n.209-2603T>C
ENST00000682775.1:c.247T>C	ENSP00000508399.1:p.Leu83=
ENST00000682944.1:c.247T>C	ENSP00000507173.1:p.Leu83=
ENST00000683154.1:n.385T>C
ENST00000683210.1:c.247T>C	ENSP00000506739.1:p.Leu83=
ENST00000683270.1:c.238T>C	ENSP00000507624.1:p.Leu80=
ENST00000683367.1:c.238T>C	ENSP00000507780.1:p.Leu80=
ENST00000683489.1:c.247T>C	ENSP00000508403.1:p.Leu83=
ENST00000683680.1:c.247T>C	ENSP00000507223.1:p.Leu83=
ENST00000684053.1:n.364T>C
ENST00000684163.1:c.238T>C	ENSP00000508262.1:p.Leu80=
ENST00000684196.1:n.2604T>C
ENST00000684325.1:c.247T>C	ENSP00000508121.1:p.Leu83=
ENST00000684385.1:c.247T>C	ENSP00000507855.1:p.Leu83=
ENST00000684497.1:c.247T>C	ENSP00000507057.1:p.Leu83=
XM_005266338.1:c.247T>C	XP_005266395.1:p.Leu83=
XM_005266338.2:c.247T>C	XP_005266395.1:p.Leu83=
XM_011535038.1:c.271T>C	XP_011533340.1:p.Leu91=
XM_011535039.1:c.238T>C	XP_011533341.1:p.Leu80=
XM_011535039.2:c.238T>C	XP_011533341.1:p.Leu80=
XM_017020539.1:c.238T>C	XP_016876028.1:p.Leu80=
XM_024449337.1:c.247T>C	XP_024305105.1:p.Leu83=