Canonical Allele Identifier: CA6911272

Gene: SACS

Linked Data

• ClinVar Variation Id: 699984
• ClinVar RCV Id: RCV000867989 ; RCV001278826
• dbSNP Id: rs201982449
• ExAC: 13:23912741 G / A
• gnomAD v2: 13-23912741-G-A
• gnomAD v3: 13-23338602-G-A
• gnomAD v4: 13-23338602-G-A
• MyVariant Identifiers: chr13:g.23912741G>A (hg19) ; chr13:g.23338602G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23338602G>A , CM000675.2:g.23338602G>A	GRCh38
NC_000013.10:g.23912741G>A , CM000675.1:g.23912741G>A	GRCh37
NC_000013.9:g.22810741G>A	NCBI36
NG_012342.1:g.100101C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15183C>T	ENSP00000508399.1:n.2185+15183C>T
ENST00000682944.1:c.5301C>T	ENSP00000507173.1:p.Cys1767=
ENST00000683210.1:c.2185+15183C>T	ENSP00000506739.1:n.2185+15183C>T
ENST00000683270.1:c.5265C>T	ENSP00000507624.1:p.Cys1755=
ENST00000683367.1:c.2177-9118C>T	ENSP00000507780.1:n.2177-9118C>T
ENST00000683489.1:c.2291+2983C>T	ENSP00000508403.1:n.2291+2983C>T
ENST00000683680.1:c.2318+2983C>T	ENSP00000507223.1:n.2318+2983C>T
ENST00000684163.1:c.2203+8209C>T	ENSP00000508262.1:n.2203+8209C>T
ENST00000684196.1:n.4543-9118C>T
ENST00000684325.1:c.2185+15183C>T	ENSP00000508121.1:n.2185+15183C>T
ENST00000684385.1:c.2220+8209C>T	ENSP00000507855.1:n.2220+8209C>T
ENST00000684497.1:c.2185+15183C>T	ENSP00000507057.1:n.2185+15183C>T
ENST00000382292.9:c.5274C>T MANE Select	ENSP00000371729.3:p.Cys1758=
ENST00000423156.2:c.2186-9118C>T	ENSP00000390925.2:n.2186-9118C>T
ENST00000455470.6:c.2431+2843C>T	ENSP00000406565.2:n.2431+2843C>T
ENST00000382292.7:c.5274C>T	ENSP00000371729.3:p.Cys1758=
ENST00000382298.7:c.5274C>T	ENSP00000371735.3:p.Cys1758=
ENST00000402364.1:c.3024C>T	ENSP00000385844.1:p.Cys1008=
ENST00000423156.1:c.1058-9118C>T	ENSP00000390925.1:n.1058-9118C>T
ENST00000455470.5:c.2129+2843C>T
NM_001278055.1:c.4833C>T	NP_001264984.1:p.Cys1611=
NM_014363.5:c.5274C>T	NP_055178.3:p.Cys1758=
XM_005266338.1:c.5301C>T	XP_005266395.1:p.Cys1767=
XM_011535038.1:c.5325C>T	XP_011533340.1:p.Cys1775=
XM_011535039.1:c.5292C>T	XP_011533341.1:p.Cys1764=
XM_005266338.2:c.5301C>T	XP_005266395.1:p.Cys1767=
XM_011535039.2:c.5292C>T	XP_011533341.1:p.Cys1764=
XM_017020539.1:c.5265C>T	XP_016876028.1:p.Cys1755=
XM_024449337.1:c.5301C>T	XP_024305105.1:p.Cys1767=
NM_014363.6:c.5274C>T MANE Select	NP_055178.3:p.Cys1758=
NM_001278055.2:c.4833C>T	NP_001264984.1:p.Cys1611=