Canonical Allele Identifier: CA387525868

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23912667C>G (hg19) ; chr13:g.23338528C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23338528C>G , CM000675.2:g.23338528C>G	GRCh38
NC_000013.10:g.23912667C>G , CM000675.1:g.23912667C>G	GRCh37
NC_000013.9:g.22810667C>G	NCBI36
NG_012342.1:g.100175G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15257G>C	ENSP00000508399.1:n.2185+15257G>C
ENST00000682944.1:c.5375G>C	ENSP00000507173.1:p.Arg1792Thr
ENST00000683210.1:c.2185+15257G>C	ENSP00000506739.1:n.2185+15257G>C
ENST00000683270.1:c.5339G>C	ENSP00000507624.1:p.Arg1780Thr
ENST00000683367.1:c.2177-9044G>C	ENSP00000507780.1:n.2177-9044G>C
ENST00000683489.1:c.2291+3057G>C	ENSP00000508403.1:n.2291+3057G>C
ENST00000683680.1:c.2318+3057G>C	ENSP00000507223.1:n.2318+3057G>C
ENST00000684163.1:c.2203+8283G>C	ENSP00000508262.1:n.2203+8283G>C
ENST00000684196.1:n.4543-9044G>C
ENST00000684325.1:c.2185+15257G>C	ENSP00000508121.1:n.2185+15257G>C
ENST00000684385.1:c.2220+8283G>C	ENSP00000507855.1:n.2220+8283G>C
ENST00000684497.1:c.2185+15257G>C	ENSP00000507057.1:n.2185+15257G>C
ENST00000382292.9:c.5348G>C MANE Select	ENSP00000371729.3:p.Arg1783Thr
ENST00000423156.2:c.2186-9044G>C	ENSP00000390925.2:n.2186-9044G>C
ENST00000455470.6:c.2431+2917G>C	ENSP00000406565.2:n.2431+2917G>C
ENST00000382292.7:c.5348G>C	ENSP00000371729.3:p.Arg1783Thr
ENST00000382298.7:c.5348G>C	ENSP00000371735.3:p.Arg1783Thr
ENST00000402364.1:c.3098G>C	ENSP00000385844.1:p.Arg1033Thr
ENST00000423156.1:c.1058-9044G>C	ENSP00000390925.1:n.1058-9044G>C
ENST00000455470.5:c.2129+2917G>C
NM_001278055.1:c.4907G>C	NP_001264984.1:p.Arg1636Thr
NM_014363.5:c.5348G>C	NP_055178.3:p.Arg1783Thr
XM_005266338.1:c.5375G>C	XP_005266395.1:p.Arg1792Thr
XM_011535038.1:c.5399G>C	XP_011533340.1:p.Arg1800Thr
XM_011535039.1:c.5366G>C	XP_011533341.1:p.Arg1789Thr
XM_005266338.2:c.5375G>C	XP_005266395.1:p.Arg1792Thr
XM_011535039.2:c.5366G>C	XP_011533341.1:p.Arg1789Thr
XM_017020539.1:c.5339G>C	XP_016876028.1:p.Arg1780Thr
XM_024449337.1:c.5375G>C	XP_024305105.1:p.Arg1792Thr
NM_014363.6:c.5348G>C MANE Select	NP_055178.3:p.Arg1783Thr
NM_001278055.2:c.4907G>C	NP_001264984.1:p.Arg1636Thr