Canonical Allele Identifier: CA483157353

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23904446A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330307A>T , CM000675.2:g.23330307A>T	GRCh38
NC_000013.10:g.23904446A>T , CM000675.1:g.23904446A>T	GRCh37
NC_000013.9:g.22802446A>T	NCBI36
NG_012342.1:g.108396T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18192T>A	ENSP00000508399.1:n.2186-18192T>A
ENST00000682944.1:c.13596T>A	ENSP00000507173.1:p.Val4532=
ENST00000683210.1:c.2185+23478T>A	ENSP00000506739.1:n.2185+23478T>A
ENST00000683270.1:c.6446-823T>A	ENSP00000507624.1:n.6446-823T>A
ENST00000683367.1:c.2177-823T>A	ENSP00000507780.1:n.2177-823T>A
ENST00000683489.1:c.2292-355T>A	ENSP00000508403.1:n.2292-355T>A
ENST00000683680.1:c.2319-355T>A	ENSP00000507223.1:n.2319-355T>A
ENST00000684163.1:c.2204-823T>A	ENSP00000508262.1:n.2204-823T>A
ENST00000684196.1:n.4543-823T>A
ENST00000684325.1:c.2186-8633T>A	ENSP00000508121.1:n.2186-8633T>A
ENST00000684385.1:c.2221-823T>A	ENSP00000507855.1:n.2221-823T>A
ENST00000684497.1:c.2186-7663T>A	ENSP00000507057.1:n.2186-7663T>A
ENST00000382292.9:c.13569T>A MANE Select	ENSP00000371729.3:p.Val4523=
ENST00000423156.2:c.2186-823T>A	ENSP00000390925.2:n.2186-823T>A
ENST00000455470.6:c.2432-823T>A	ENSP00000406565.2:n.2432-823T>A
ENST00000382292.7:c.13569T>A	ENSP00000371729.3:p.Val4523=
ENST00000382298.7:c.13569T>A	ENSP00000371735.3:p.Val4523=
ENST00000402364.1:c.11319T>A	ENSP00000385844.1:p.Val3773=
ENST00000423156.1:c.1058-823T>A	ENSP00000390925.1:n.1058-823T>A
ENST00000455470.5:c.2130-823T>A
NM_001278055.1:c.13128T>A	NP_001264984.1:p.Val4376=
NM_014363.5:c.13569T>A	NP_055178.3:p.Val4523=
XM_005266338.1:c.13596T>A	XP_005266395.1:p.Val4532=
XM_011535038.1:c.13620T>A	XP_011533340.1:p.Val4540=
XM_011535039.1:c.13587T>A	XP_011533341.1:p.Val4529=
XM_005266338.2:c.13596T>A	XP_005266395.1:p.Val4532=
XM_011535039.2:c.13587T>A	XP_011533341.1:p.Val4529=
XM_017020539.1:c.13560T>A	XP_016876028.1:p.Val4520=
XM_024449337.1:c.13596T>A	XP_024305105.1:p.Val4532=
NM_014363.6:c.13569T>A MANE Select	NP_055178.3:p.Val4523=
NM_001278055.2:c.13128T>A	NP_001264984.1:p.Val4376=