Canonical Allele Identifier: CA483160903

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23910392A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336253A>T , CM000675.2:g.23336253A>T	GRCh38
NC_000013.10:g.23910392A>T , CM000675.1:g.23910392A>T	GRCh37
NC_000013.9:g.22808392A>T	NCBI36
NG_012342.1:g.102450T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+17532T>A	ENSP00000508399.1:n.2185+17532T>A
ENST00000682944.1:c.7650T>A	ENSP00000507173.1:p.Ser2550=
ENST00000683210.1:c.2185+17532T>A	ENSP00000506739.1:n.2185+17532T>A
ENST00000683270.1:c.6445+1169T>A	ENSP00000507624.1:n.6445+1169T>A
ENST00000683367.1:c.2177-6769T>A	ENSP00000507780.1:n.2177-6769T>A
ENST00000683489.1:c.2291+5332T>A	ENSP00000508403.1:n.2291+5332T>A
ENST00000683680.1:c.2318+5332T>A	ENSP00000507223.1:n.2318+5332T>A
ENST00000684163.1:c.2204-6769T>A	ENSP00000508262.1:n.2204-6769T>A
ENST00000684196.1:n.4543-6769T>A
ENST00000684325.1:c.2186-14579T>A	ENSP00000508121.1:n.2186-14579T>A
ENST00000684385.1:c.2221-6769T>A	ENSP00000507855.1:n.2221-6769T>A
ENST00000684497.1:c.2186-13609T>A	ENSP00000507057.1:n.2186-13609T>A
ENST00000382292.9:c.7623T>A MANE Select	ENSP00000371729.3:p.Ser2541=
ENST00000423156.2:c.2186-6769T>A	ENSP00000390925.2:n.2186-6769T>A
ENST00000455470.6:c.2431+5192T>A	ENSP00000406565.2:n.2431+5192T>A
ENST00000382292.7:c.7623T>A	ENSP00000371729.3:p.Ser2541=
ENST00000382298.7:c.7623T>A	ENSP00000371735.3:p.Ser2541=
ENST00000402364.1:c.5373T>A	ENSP00000385844.1:p.Ser1791=
ENST00000423156.1:c.1058-6769T>A	ENSP00000390925.1:n.1058-6769T>A
ENST00000455470.5:c.2129+5192T>A
NM_001278055.1:c.7182T>A	NP_001264984.1:p.Ser2394=
NM_014363.5:c.7623T>A	NP_055178.3:p.Ser2541=
XM_005266338.1:c.7650T>A	XP_005266395.1:p.Ser2550=
XM_011535038.1:c.7674T>A	XP_011533340.1:p.Ser2558=
XM_011535039.1:c.7641T>A	XP_011533341.1:p.Ser2547=
XM_005266338.2:c.7650T>A	XP_005266395.1:p.Ser2550=
XM_011535039.2:c.7641T>A	XP_011533341.1:p.Ser2547=
XM_017020539.1:c.7614T>A	XP_016876028.1:p.Ser2538=
XM_024449337.1:c.7650T>A	XP_024305105.1:p.Ser2550=
NM_014363.6:c.7623T>A MANE Select	NP_055178.3:p.Ser2541=
NM_001278055.2:c.7182T>A	NP_001264984.1:p.Ser2394=