Canonical Allele Identifier: CA6911364

Gene: SACS

Linked Data

• dbSNP Id: rs368789897
• ExAC: 13:23913366 A / G
• gnomAD v2: 13-23913366-A-G
• MyVariant Identifiers: chr13:g.23913366A>G (hg19) ; chr13:g.23339227A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23339227A>G , CM000675.2:g.23339227A>G	GRCh38
NC_000013.10:g.23913366A>G , CM000675.1:g.23913366A>G	GRCh37
NC_000013.9:g.22811366A>G	NCBI36
NG_012342.1:g.99476T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+14558T>C	ENSP00000508399.1:n.2185+14558T>C
ENST00000682944.1:c.4676T>C	ENSP00000507173.1:p.Val1559Ala
ENST00000683210.1:c.2185+14558T>C	ENSP00000506739.1:n.2185+14558T>C
ENST00000683270.1:c.4640T>C	ENSP00000507624.1:p.Val1547Ala
ENST00000683367.1:c.2177-9743T>C	ENSP00000507780.1:n.2177-9743T>C
ENST00000683489.1:c.2291+2358T>C	ENSP00000508403.1:n.2291+2358T>C
ENST00000683680.1:c.2318+2358T>C	ENSP00000507223.1:n.2318+2358T>C
ENST00000684163.1:c.2203+7584T>C	ENSP00000508262.1:n.2203+7584T>C
ENST00000684196.1:n.4543-9743T>C
ENST00000684325.1:c.2185+14558T>C	ENSP00000508121.1:n.2185+14558T>C
ENST00000684385.1:c.2220+7584T>C	ENSP00000507855.1:n.2220+7584T>C
ENST00000684497.1:c.2185+14558T>C	ENSP00000507057.1:n.2185+14558T>C
ENST00000382292.9:c.4649T>C MANE Select	ENSP00000371729.3:p.Val1550Ala
ENST00000423156.2:c.2186-9743T>C	ENSP00000390925.2:n.2186-9743T>C
ENST00000455470.6:c.2431+2218T>C	ENSP00000406565.2:n.2431+2218T>C
ENST00000382292.7:c.4649T>C	ENSP00000371729.3:p.Val1550Ala
ENST00000382298.7:c.4649T>C	ENSP00000371735.3:p.Val1550Ala
ENST00000402364.1:c.2399T>C	ENSP00000385844.1:p.Val800Ala
ENST00000423156.1:c.1058-9743T>C	ENSP00000390925.1:n.1058-9743T>C
ENST00000455470.5:c.2129+2218T>C
NM_001278055.1:c.4208T>C	NP_001264984.1:p.Val1403Ala
NM_014363.5:c.4649T>C	NP_055178.3:p.Val1550Ala
XM_005266338.1:c.4676T>C	XP_005266395.1:p.Val1559Ala
XM_011535038.1:c.4700T>C	XP_011533340.1:p.Val1567Ala
XM_011535039.1:c.4667T>C	XP_011533341.1:p.Val1556Ala
XM_005266338.2:c.4676T>C	XP_005266395.1:p.Val1559Ala
XM_011535039.2:c.4667T>C	XP_011533341.1:p.Val1556Ala
XM_017020539.1:c.4640T>C	XP_016876028.1:p.Val1547Ala
XM_024449337.1:c.4676T>C	XP_024305105.1:p.Val1559Ala
NM_014363.6:c.4649T>C MANE Select	NP_055178.3:p.Val1550Ala
NM_001278055.2:c.4208T>C	NP_001264984.1:p.Val1403Ala