Canonical Allele Identifier: CA387504957

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23904442T>A (hg19) ; chr13:g.23330303T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330303T>A , CM000675.2:g.23330303T>A	GRCh38
NC_000013.10:g.23904442T>A , CM000675.1:g.23904442T>A	GRCh37
NC_000013.9:g.22802442T>A	NCBI36
NG_012342.1:g.108400A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18188A>T	ENSP00000508399.1:n.2186-18188A>T
ENST00000682944.1:c.13600A>T	ENSP00000507173.1:p.Thr4534Ser
ENST00000683210.1:c.2185+23482A>T	ENSP00000506739.1:n.2185+23482A>T
ENST00000683270.1:c.6446-819A>T	ENSP00000507624.1:n.6446-819A>T
ENST00000683367.1:c.2177-819A>T	ENSP00000507780.1:n.2177-819A>T
ENST00000683489.1:c.2292-351A>T	ENSP00000508403.1:n.2292-351A>T
ENST00000683680.1:c.2319-351A>T	ENSP00000507223.1:n.2319-351A>T
ENST00000684163.1:c.2204-819A>T	ENSP00000508262.1:n.2204-819A>T
ENST00000684196.1:n.4543-819A>T
ENST00000684325.1:c.2186-8629A>T	ENSP00000508121.1:n.2186-8629A>T
ENST00000684385.1:c.2221-819A>T	ENSP00000507855.1:n.2221-819A>T
ENST00000684497.1:c.2186-7659A>T	ENSP00000507057.1:n.2186-7659A>T
ENST00000382292.9:c.13573A>T MANE Select	ENSP00000371729.3:p.Thr4525Ser
ENST00000423156.2:c.2186-819A>T	ENSP00000390925.2:n.2186-819A>T
ENST00000455470.6:c.2432-819A>T	ENSP00000406565.2:n.2432-819A>T
ENST00000382292.7:c.13573A>T	ENSP00000371729.3:p.Thr4525Ser
ENST00000382298.7:c.13573A>T	ENSP00000371735.3:p.Thr4525Ser
ENST00000402364.1:c.11323A>T	ENSP00000385844.1:p.Thr3775Ser
ENST00000423156.1:c.1058-819A>T	ENSP00000390925.1:n.1058-819A>T
ENST00000455470.5:c.2130-819A>T
NM_001278055.1:c.13132A>T	NP_001264984.1:p.Thr4378Ser
NM_014363.5:c.13573A>T	NP_055178.3:p.Thr4525Ser
XM_005266338.1:c.13600A>T	XP_005266395.1:p.Thr4534Ser
XM_011535038.1:c.13624A>T	XP_011533340.1:p.Thr4542Ser
XM_011535039.1:c.13591A>T	XP_011533341.1:p.Thr4531Ser
XM_005266338.2:c.13600A>T	XP_005266395.1:p.Thr4534Ser
XM_011535039.2:c.13591A>T	XP_011533341.1:p.Thr4531Ser
XM_017020539.1:c.13564A>T	XP_016876028.1:p.Thr4522Ser
XM_024449337.1:c.13600A>T	XP_024305105.1:p.Thr4534Ser
NM_014363.6:c.13573A>T MANE Select	NP_055178.3:p.Thr4525Ser
NM_001278055.2:c.13132A>T	NP_001264984.1:p.Thr4378Ser