Canonical Allele Identifier: CA482922091

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23932526A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23358387A>G , CM000675.2:g.23358387A>G	GRCh38
NC_000013.10:g.23932526A>G , CM000675.1:g.23932526A>G	GRCh37
NC_000013.9:g.22830526A>G	NCBI36
NG_012342.1:g.80316T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.552T>C	ENSP00000508399.1:p.Pro184=
ENST00000682944.1:c.552T>C	ENSP00000507173.1:p.Pro184=
ENST00000683154.1:n.690T>C
ENST00000683210.1:c.552T>C	ENSP00000506739.1:p.Pro184=
ENST00000683270.1:c.543T>C	ENSP00000507624.1:p.Pro181=
ENST00000683367.1:c.543T>C	ENSP00000507780.1:p.Pro181=
ENST00000683489.1:c.552T>C	ENSP00000508403.1:p.Pro184=
ENST00000683680.1:c.552T>C	ENSP00000507223.1:p.Pro184=
ENST00000684163.1:c.543T>C	ENSP00000508262.1:p.Pro181=
ENST00000684196.1:n.2909T>C
ENST00000684325.1:c.552T>C	ENSP00000508121.1:p.Pro184=
ENST00000684385.1:c.552T>C	ENSP00000507855.1:p.Pro184=
ENST00000684497.1:c.552T>C	ENSP00000507057.1:p.Pro184=
ENST00000382292.9:c.552T>C MANE Select	ENSP00000371729.3:p.Pro184=
ENST00000423156.2:c.552T>C	ENSP00000390925.2:p.Pro184=
ENST00000455470.6:c.552T>C	ENSP00000406565.2:p.Pro184=
ENST00000382292.7:c.552T>C	ENSP00000371729.3:p.Pro184=
ENST00000382298.7:c.552T>C	ENSP00000371735.3:p.Pro184=
ENST00000402364.1:c.-1699T>C	ENSP00000385844.1:n.-1699T>C
ENST00000455470.5:c.250T>C
NM_001278055.1:c.111T>C	NP_001264984.1:p.Pro37=
NM_014363.5:c.552T>C	NP_055178.3:p.Pro184=
XM_005266338.1:c.552T>C	XP_005266395.1:p.Pro184=
XM_011535038.1:c.576T>C	XP_011533340.1:p.Pro192=
XM_011535039.1:c.543T>C	XP_011533341.1:p.Pro181=
XM_005266338.2:c.552T>C	XP_005266395.1:p.Pro184=
XM_011535039.2:c.543T>C	XP_011533341.1:p.Pro181=
XM_017020539.1:c.543T>C	XP_016876028.1:p.Pro181=
XM_024449337.1:c.552T>C	XP_024305105.1:p.Pro184=
NM_014363.6:c.552T>C MANE Select	NP_055178.3:p.Pro184=
NM_001278055.2:c.111T>C	NP_001264984.1:p.Pro37=