Canonical Allele Identifier: CA246647864

Gene: SACS

Linked Data

• dbSNP Id: rs578093392
• MyVariant Identifiers: chr13:g.23904697A>T (hg19) ; chr13:g.23330558A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330558A>T , CM000675.2:g.23330558A>T	GRCh38
NC_000013.10:g.23904697A>T , CM000675.1:g.23904697A>T	GRCh37
NC_000013.9:g.22802697A>T	NCBI36
NG_012342.1:g.108145T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18443T>A	ENSP00000508399.1:n.2186-18443T>A
ENST00000682944.1:c.13345T>A	ENSP00000507173.1:p.Ser4449Thr
ENST00000683210.1:c.2185+23227T>A	ENSP00000506739.1:n.2185+23227T>A
ENST00000683270.1:c.6446-1074T>A	ENSP00000507624.1:n.6446-1074T>A
ENST00000683367.1:c.2177-1074T>A	ENSP00000507780.1:n.2177-1074T>A
ENST00000683489.1:c.2292-606T>A	ENSP00000508403.1:n.2292-606T>A
ENST00000683680.1:c.2319-606T>A	ENSP00000507223.1:n.2319-606T>A
ENST00000684163.1:c.2204-1074T>A	ENSP00000508262.1:n.2204-1074T>A
ENST00000684196.1:n.4543-1074T>A
ENST00000684325.1:c.2186-8884T>A	ENSP00000508121.1:n.2186-8884T>A
ENST00000684385.1:c.2221-1074T>A	ENSP00000507855.1:n.2221-1074T>A
ENST00000684497.1:c.2186-7914T>A	ENSP00000507057.1:n.2186-7914T>A
ENST00000382292.9:c.13318T>A MANE Select	ENSP00000371729.3:p.Ser4440Thr
ENST00000423156.2:c.2186-1074T>A	ENSP00000390925.2:n.2186-1074T>A
ENST00000455470.6:c.2432-1074T>A	ENSP00000406565.2:n.2432-1074T>A
ENST00000382292.7:c.13318T>A	ENSP00000371729.3:p.Ser4440Thr
ENST00000382298.7:c.13318T>A	ENSP00000371735.3:p.Ser4440Thr
ENST00000402364.1:c.11068T>A	ENSP00000385844.1:p.Ser3690Thr
ENST00000423156.1:c.1058-1074T>A	ENSP00000390925.1:n.1058-1074T>A
ENST00000455470.5:c.2130-1074T>A
NM_001278055.1:c.12877T>A	NP_001264984.1:p.Ser4293Thr
NM_014363.5:c.13318T>A	NP_055178.3:p.Ser4440Thr
XM_005266338.1:c.13345T>A	XP_005266395.1:p.Ser4449Thr
XM_011535038.1:c.13369T>A	XP_011533340.1:p.Ser4457Thr
XM_011535039.1:c.13336T>A	XP_011533341.1:p.Ser4446Thr
XM_005266338.2:c.13345T>A	XP_005266395.1:p.Ser4449Thr
XM_011535039.2:c.13336T>A	XP_011533341.1:p.Ser4446Thr
XM_017020539.1:c.13309T>A	XP_016876028.1:p.Ser4437Thr
XM_024449337.1:c.13345T>A	XP_024305105.1:p.Ser4449Thr
NM_014363.6:c.13318T>A MANE Select	NP_055178.3:p.Ser4440Thr
NM_001278055.2:c.12877T>A	NP_001264984.1:p.Ser4293Thr