Canonical Allele Identifier: CA387525927

Gene: SACS

Linked Data

• ClinVar Variation Id: 2147242
• ClinVar RCV Id: RCV003060795
• dbSNP Id: rs1868882490
• gnomAD v4: 13-23338556-T-A
• MyVariant Identifiers: chr13:g.23912695T>A (hg19) ; chr13:g.23338556T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23338556T>A , CM000675.2:g.23338556T>A	GRCh38
NC_000013.10:g.23912695T>A , CM000675.1:g.23912695T>A	GRCh37
NC_000013.9:g.22810695T>A	NCBI36
NG_012342.1:g.100147A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15229A>T	ENSP00000508399.1:n.2185+15229A>T
ENST00000682944.1:c.5347A>T	ENSP00000507173.1:p.Ile1783Phe
ENST00000683210.1:c.2185+15229A>T	ENSP00000506739.1:n.2185+15229A>T
ENST00000683270.1:c.5311A>T	ENSP00000507624.1:p.Ile1771Phe
ENST00000683367.1:c.2177-9072A>T	ENSP00000507780.1:n.2177-9072A>T
ENST00000683489.1:c.2291+3029A>T	ENSP00000508403.1:n.2291+3029A>T
ENST00000683680.1:c.2318+3029A>T	ENSP00000507223.1:n.2318+3029A>T
ENST00000684163.1:c.2203+8255A>T	ENSP00000508262.1:n.2203+8255A>T
ENST00000684196.1:n.4543-9072A>T
ENST00000684325.1:c.2185+15229A>T	ENSP00000508121.1:n.2185+15229A>T
ENST00000684385.1:c.2220+8255A>T	ENSP00000507855.1:n.2220+8255A>T
ENST00000684497.1:c.2185+15229A>T	ENSP00000507057.1:n.2185+15229A>T
ENST00000382292.9:c.5320A>T MANE Select	ENSP00000371729.3:p.Ile1774Phe
ENST00000423156.2:c.2186-9072A>T	ENSP00000390925.2:n.2186-9072A>T
ENST00000455470.6:c.2431+2889A>T	ENSP00000406565.2:n.2431+2889A>T
ENST00000382292.7:c.5320A>T	ENSP00000371729.3:p.Ile1774Phe
ENST00000382298.7:c.5320A>T	ENSP00000371735.3:p.Ile1774Phe
ENST00000402364.1:c.3070A>T	ENSP00000385844.1:p.Ile1024Phe
ENST00000423156.1:c.1058-9072A>T	ENSP00000390925.1:n.1058-9072A>T
ENST00000455470.5:c.2129+2889A>T
NM_001278055.1:c.4879A>T	NP_001264984.1:p.Ile1627Phe
NM_014363.5:c.5320A>T	NP_055178.3:p.Ile1774Phe
XM_005266338.1:c.5347A>T	XP_005266395.1:p.Ile1783Phe
XM_011535038.1:c.5371A>T	XP_011533340.1:p.Ile1791Phe
XM_011535039.1:c.5338A>T	XP_011533341.1:p.Ile1780Phe
XM_005266338.2:c.5347A>T	XP_005266395.1:p.Ile1783Phe
XM_011535039.2:c.5338A>T	XP_011533341.1:p.Ile1780Phe
XM_017020539.1:c.5311A>T	XP_016876028.1:p.Ile1771Phe
XM_024449337.1:c.5347A>T	XP_024305105.1:p.Ile1783Phe
NM_014363.6:c.5320A>T MANE Select	NP_055178.3:p.Ile1774Phe
NM_001278055.2:c.4879A>T	NP_001264984.1:p.Ile1627Phe