Canonical Allele Identifier: CA387524161

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23912037A>G (hg19) ; chr13:g.23337898A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337898A>G , CM000675.2:g.23337898A>G	GRCh38
NC_000013.10:g.23912037A>G , CM000675.1:g.23912037A>G	GRCh37
NC_000013.9:g.22810037A>G	NCBI36
NG_012342.1:g.100805T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15887T>C	ENSP00000508399.1:n.2185+15887T>C
ENST00000682944.1:c.6005T>C	ENSP00000507173.1:p.Phe2002Ser
ENST00000683210.1:c.2185+15887T>C	ENSP00000506739.1:n.2185+15887T>C
ENST00000683270.1:c.5969T>C	ENSP00000507624.1:p.Phe1990Ser
ENST00000683367.1:c.2177-8414T>C	ENSP00000507780.1:n.2177-8414T>C
ENST00000683489.1:c.2291+3687T>C	ENSP00000508403.1:n.2291+3687T>C
ENST00000683680.1:c.2318+3687T>C	ENSP00000507223.1:n.2318+3687T>C
ENST00000684163.1:c.2204-8414T>C	ENSP00000508262.1:n.2204-8414T>C
ENST00000684196.1:n.4543-8414T>C
ENST00000684325.1:c.2185+15887T>C	ENSP00000508121.1:n.2185+15887T>C
ENST00000684385.1:c.2221-8414T>C	ENSP00000507855.1:n.2221-8414T>C
ENST00000684497.1:c.2186-15254T>C	ENSP00000507057.1:n.2186-15254T>C
ENST00000382292.9:c.5978T>C MANE Select	ENSP00000371729.3:p.Phe1993Ser
ENST00000423156.2:c.2186-8414T>C	ENSP00000390925.2:n.2186-8414T>C
ENST00000455470.6:c.2431+3547T>C	ENSP00000406565.2:n.2431+3547T>C
ENST00000382292.7:c.5978T>C	ENSP00000371729.3:p.Phe1993Ser
ENST00000382298.7:c.5978T>C	ENSP00000371735.3:p.Phe1993Ser
ENST00000402364.1:c.3728T>C	ENSP00000385844.1:p.Phe1243Ser
ENST00000423156.1:c.1058-8414T>C	ENSP00000390925.1:n.1058-8414T>C
ENST00000455470.5:c.2129+3547T>C
NM_001278055.1:c.5537T>C	NP_001264984.1:p.Phe1846Ser
NM_014363.5:c.5978T>C	NP_055178.3:p.Phe1993Ser
XM_005266338.1:c.6005T>C	XP_005266395.1:p.Phe2002Ser
XM_011535038.1:c.6029T>C	XP_011533340.1:p.Phe2010Ser
XM_011535039.1:c.5996T>C	XP_011533341.1:p.Phe1999Ser
XM_005266338.2:c.6005T>C	XP_005266395.1:p.Phe2002Ser
XM_011535039.2:c.5996T>C	XP_011533341.1:p.Phe1999Ser
XM_017020539.1:c.5969T>C	XP_016876028.1:p.Phe1990Ser
XM_024449337.1:c.6005T>C	XP_024305105.1:p.Phe2002Ser
NM_014363.6:c.5978T>C MANE Select	NP_055178.3:p.Phe1993Ser
NM_001278055.2:c.5537T>C	NP_001264984.1:p.Phe1846Ser