Canonical Allele Identifier: CA387506733

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23905147A>T (hg19) ; chr13:g.23331008A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23331008A>T , CM000675.2:g.23331008A>T	GRCh38
NC_000013.10:g.23905147A>T , CM000675.1:g.23905147A>T	GRCh37
NC_000013.9:g.22803147A>T	NCBI36
NG_012342.1:g.107695T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18893T>A	ENSP00000508399.1:n.2186-18893T>A
ENST00000682944.1:c.12895T>A	ENSP00000507173.1:p.Ser4299Thr
ENST00000683210.1:c.2185+22777T>A	ENSP00000506739.1:n.2185+22777T>A
ENST00000683270.1:c.6446-1524T>A	ENSP00000507624.1:n.6446-1524T>A
ENST00000683367.1:c.2177-1524T>A	ENSP00000507780.1:n.2177-1524T>A
ENST00000683489.1:c.2292-1056T>A	ENSP00000508403.1:n.2292-1056T>A
ENST00000683680.1:c.2319-1056T>A	ENSP00000507223.1:n.2319-1056T>A
ENST00000684163.1:c.2204-1524T>A	ENSP00000508262.1:n.2204-1524T>A
ENST00000684196.1:n.4543-1524T>A
ENST00000684325.1:c.2186-9334T>A	ENSP00000508121.1:n.2186-9334T>A
ENST00000684385.1:c.2221-1524T>A	ENSP00000507855.1:n.2221-1524T>A
ENST00000684497.1:c.2186-8364T>A	ENSP00000507057.1:n.2186-8364T>A
ENST00000382292.9:c.12868T>A MANE Select	ENSP00000371729.3:p.Ser4290Thr
ENST00000423156.2:c.2186-1524T>A	ENSP00000390925.2:n.2186-1524T>A
ENST00000455470.6:c.2432-1524T>A	ENSP00000406565.2:n.2432-1524T>A
ENST00000382292.7:c.12868T>A	ENSP00000371729.3:p.Ser4290Thr
ENST00000382298.7:c.12868T>A	ENSP00000371735.3:p.Ser4290Thr
ENST00000402364.1:c.10618T>A	ENSP00000385844.1:p.Ser3540Thr
ENST00000423156.1:c.1058-1524T>A	ENSP00000390925.1:n.1058-1524T>A
ENST00000455470.5:c.2130-1524T>A
NM_001278055.1:c.12427T>A	NP_001264984.1:p.Ser4143Thr
NM_014363.5:c.12868T>A	NP_055178.3:p.Ser4290Thr
XM_005266338.1:c.12895T>A	XP_005266395.1:p.Ser4299Thr
XM_011535038.1:c.12919T>A	XP_011533340.1:p.Ser4307Thr
XM_011535039.1:c.12886T>A	XP_011533341.1:p.Ser4296Thr
XM_005266338.2:c.12895T>A	XP_005266395.1:p.Ser4299Thr
XM_011535039.2:c.12886T>A	XP_011533341.1:p.Ser4296Thr
XM_017020539.1:c.12859T>A	XP_016876028.1:p.Ser4287Thr
XM_024449337.1:c.12895T>A	XP_024305105.1:p.Ser4299Thr
NM_014363.6:c.12868T>A MANE Select	NP_055178.3:p.Ser4290Thr
NM_001278055.2:c.12427T>A	NP_001264984.1:p.Ser4143Thr