Canonical Allele Identifier: CA387539766

Gene: SACS

Linked Data

• gnomAD v4: 13-23341615-A-C
• MyVariant Identifiers: chr13:g.23915754A>C (hg19) ; chr13:g.23341615A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23341615A>C , CM000675.2:g.23341615A>C	GRCh38
NC_000013.10:g.23915754A>C , CM000675.1:g.23915754A>C	GRCh37
NC_000013.9:g.22813754A>C	NCBI36
NG_012342.1:g.97088T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+12170T>G	ENSP00000508399.1:n.2185+12170T>G
ENST00000682944.1:c.2288T>G	ENSP00000507173.1:p.Phe763Cys
ENST00000683210.1:c.2185+12170T>G	ENSP00000506739.1:n.2185+12170T>G
ENST00000683270.1:c.2252T>G	ENSP00000507624.1:p.Phe751Cys
ENST00000683367.1:c.2177-12131T>G	ENSP00000507780.1:n.2177-12131T>G
ENST00000683489.1:c.2261T>G	ENSP00000508403.1:p.Phe754Cys
ENST00000683680.1:c.2288T>G	ENSP00000507223.1:p.Phe763Cys
ENST00000684163.1:c.2203+5196T>G	ENSP00000508262.1:n.2203+5196T>G
ENST00000684196.1:n.4543-12131T>G
ENST00000684325.1:c.2185+12170T>G	ENSP00000508121.1:n.2185+12170T>G
ENST00000684385.1:c.2220+5196T>G	ENSP00000507855.1:n.2220+5196T>G
ENST00000684497.1:c.2185+12170T>G	ENSP00000507057.1:n.2185+12170T>G
ENST00000382292.9:c.2261T>G MANE Select	ENSP00000371729.3:p.Phe754Cys
ENST00000423156.2:c.2186-12131T>G	ENSP00000390925.2:n.2186-12131T>G
ENST00000455470.6:c.2261T>G	ENSP00000406565.2:p.Phe754Cys
ENST00000382292.7:c.2261T>G	ENSP00000371729.3:p.Phe754Cys
ENST00000382298.7:c.2261T>G	ENSP00000371735.3:p.Phe754Cys
ENST00000402364.1:c.11T>G	ENSP00000385844.1:p.Phe4Cys
ENST00000423156.1:c.1058-12131T>G	ENSP00000390925.1:n.1058-12131T>G
ENST00000455470.5:c.1959T>G
NM_001278055.1:c.1820T>G	NP_001264984.1:p.Phe607Cys
NM_014363.5:c.2261T>G	NP_055178.3:p.Phe754Cys
XM_005266338.1:c.2288T>G	XP_005266395.1:p.Phe763Cys
XM_011535038.1:c.2312T>G	XP_011533340.1:p.Phe771Cys
XM_011535039.1:c.2279T>G	XP_011533341.1:p.Phe760Cys
XM_005266338.2:c.2288T>G	XP_005266395.1:p.Phe763Cys
XM_011535039.2:c.2279T>G	XP_011533341.1:p.Phe760Cys
XM_017020539.1:c.2252T>G	XP_016876028.1:p.Phe751Cys
XM_024449337.1:c.2288T>G	XP_024305105.1:p.Phe763Cys
NM_014363.6:c.2261T>G MANE Select	NP_055178.3:p.Phe754Cys
NM_001278055.2:c.1820T>G	NP_001264984.1:p.Phe607Cys