Canonical Allele Identifier: CA387510761

Gene: SACS

Linked Data

• gnomAD v4: 13-23332789-A-G
• MyVariant Identifiers: chr13:g.23906928A>G (hg19) ; chr13:g.23332789A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23332789A>G , CM000675.2:g.23332789A>G	GRCh38
NC_000013.10:g.23906928A>G , CM000675.1:g.23906928A>G	GRCh37
NC_000013.9:g.22804928A>G	NCBI36
NG_012342.1:g.105914T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-20674T>C	ENSP00000508399.1:n.2186-20674T>C
ENST00000682944.1:c.11114T>C	ENSP00000507173.1:p.Val3705Ala
ENST00000683210.1:c.2185+20996T>C	ENSP00000506739.1:n.2185+20996T>C
ENST00000683270.1:c.6446-3305T>C	ENSP00000507624.1:n.6446-3305T>C
ENST00000683367.1:c.2177-3305T>C	ENSP00000507780.1:n.2177-3305T>C
ENST00000683489.1:c.2292-2837T>C	ENSP00000508403.1:n.2292-2837T>C
ENST00000683680.1:c.2319-2837T>C	ENSP00000507223.1:n.2319-2837T>C
ENST00000684163.1:c.2204-3305T>C	ENSP00000508262.1:n.2204-3305T>C
ENST00000684196.1:n.4543-3305T>C
ENST00000684325.1:c.2186-11115T>C	ENSP00000508121.1:n.2186-11115T>C
ENST00000684385.1:c.2221-3305T>C	ENSP00000507855.1:n.2221-3305T>C
ENST00000684497.1:c.2186-10145T>C	ENSP00000507057.1:n.2186-10145T>C
ENST00000382292.9:c.11087T>C MANE Select	ENSP00000371729.3:p.Val3696Ala
ENST00000423156.2:c.2186-3305T>C	ENSP00000390925.2:n.2186-3305T>C
ENST00000455470.6:c.2432-3305T>C	ENSP00000406565.2:n.2432-3305T>C
ENST00000382292.7:c.11087T>C	ENSP00000371729.3:p.Val3696Ala
ENST00000382298.7:c.11087T>C	ENSP00000371735.3:p.Val3696Ala
ENST00000402364.1:c.8837T>C	ENSP00000385844.1:p.Val2946Ala
ENST00000423156.1:c.1058-3305T>C	ENSP00000390925.1:n.1058-3305T>C
ENST00000455470.5:c.2130-3305T>C
NM_001278055.1:c.10646T>C	NP_001264984.1:p.Val3549Ala
NM_014363.5:c.11087T>C	NP_055178.3:p.Val3696Ala
XM_005266338.1:c.11114T>C	XP_005266395.1:p.Val3705Ala
XM_011535038.1:c.11138T>C	XP_011533340.1:p.Val3713Ala
XM_011535039.1:c.11105T>C	XP_011533341.1:p.Val3702Ala
XM_005266338.2:c.11114T>C	XP_005266395.1:p.Val3705Ala
XM_011535039.2:c.11105T>C	XP_011533341.1:p.Val3702Ala
XM_017020539.1:c.11078T>C	XP_016876028.1:p.Val3693Ala
XM_024449337.1:c.11114T>C	XP_024305105.1:p.Val3705Ala
NM_014363.6:c.11087T>C MANE Select	NP_055178.3:p.Val3696Ala
NM_001278055.2:c.10646T>C	NP_001264984.1:p.Val3549Ala