Canonical Allele Identifier: CA6911349

Gene: SACS

Linked Data

• ClinVar Variation Id: 700344
• ClinVar RCV Id: RCV000868486 ; RCV001825737
• dbSNP Id: rs143310473
• ExAC: 13:23913272 G / A
• gnomAD v2: 13-23913272-G-A
• gnomAD v3: 13-23339133-G-A
• gnomAD v4: 13-23339133-G-A
• MyVariant Identifiers: chr13:g.23913272G>A (hg19) ; chr13:g.23339133G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23339133G>A , CM000675.2:g.23339133G>A	GRCh38
NC_000013.10:g.23913272G>A , CM000675.1:g.23913272G>A	GRCh37
NC_000013.9:g.22811272G>A	NCBI36
NG_012342.1:g.99570C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+14652C>T	ENSP00000508399.1:n.2185+14652C>T
ENST00000682944.1:c.4770C>T	ENSP00000507173.1:p.Phe1590=
ENST00000683210.1:c.2185+14652C>T	ENSP00000506739.1:n.2185+14652C>T
ENST00000683270.1:c.4734C>T	ENSP00000507624.1:p.Phe1578=
ENST00000683367.1:c.2177-9649C>T	ENSP00000507780.1:n.2177-9649C>T
ENST00000683489.1:c.2291+2452C>T	ENSP00000508403.1:n.2291+2452C>T
ENST00000683680.1:c.2318+2452C>T	ENSP00000507223.1:n.2318+2452C>T
ENST00000684163.1:c.2203+7678C>T	ENSP00000508262.1:n.2203+7678C>T
ENST00000684196.1:n.4543-9649C>T
ENST00000684325.1:c.2185+14652C>T	ENSP00000508121.1:n.2185+14652C>T
ENST00000684385.1:c.2220+7678C>T	ENSP00000507855.1:n.2220+7678C>T
ENST00000684497.1:c.2185+14652C>T	ENSP00000507057.1:n.2185+14652C>T
ENST00000382292.9:c.4743C>T MANE Select	ENSP00000371729.3:p.Phe1581=
ENST00000423156.2:c.2186-9649C>T	ENSP00000390925.2:n.2186-9649C>T
ENST00000455470.6:c.2431+2312C>T	ENSP00000406565.2:n.2431+2312C>T
ENST00000382292.7:c.4743C>T	ENSP00000371729.3:p.Phe1581=
ENST00000382298.7:c.4743C>T	ENSP00000371735.3:p.Phe1581=
ENST00000402364.1:c.2493C>T	ENSP00000385844.1:p.Phe831=
ENST00000423156.1:c.1058-9649C>T	ENSP00000390925.1:n.1058-9649C>T
ENST00000455470.5:c.2129+2312C>T
NM_001278055.1:c.4302C>T	NP_001264984.1:p.Phe1434=
NM_014363.5:c.4743C>T	NP_055178.3:p.Phe1581=
XM_005266338.1:c.4770C>T	XP_005266395.1:p.Phe1590=
XM_011535038.1:c.4794C>T	XP_011533340.1:p.Phe1598=
XM_011535039.1:c.4761C>T	XP_011533341.1:p.Phe1587=
XM_005266338.2:c.4770C>T	XP_005266395.1:p.Phe1590=
XM_011535039.2:c.4761C>T	XP_011533341.1:p.Phe1587=
XM_017020539.1:c.4734C>T	XP_016876028.1:p.Phe1578=
XM_024449337.1:c.4770C>T	XP_024305105.1:p.Phe1590=
NM_014363.6:c.4743C>T MANE Select	NP_055178.3:p.Phe1581=
NM_001278055.2:c.4302C>T	NP_001264984.1:p.Phe1434=