Canonical Allele Identifier: CA246658081

Gene: SACS

Linked Data

• ClinVar Variation Id: 3015950
• ClinVar RCV Id: RCV003874037
• dbSNP Id: rs968938585
• MyVariant Identifiers: chr13:g.23911604C>T (hg19) ; chr13:g.23337465C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337465C>T , CM000675.2:g.23337465C>T	GRCh38
NC_000013.10:g.23911604C>T , CM000675.1:g.23911604C>T	GRCh37
NC_000013.9:g.22809604C>T	NCBI36
NG_012342.1:g.101238G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16320G>A	ENSP00000508399.1:n.2185+16320G>A
ENST00000682944.1:c.6438G>A	ENSP00000507173.1:p.Gln2146=
ENST00000683210.1:c.2185+16320G>A	ENSP00000506739.1:n.2185+16320G>A
ENST00000683270.1:c.6402G>A	ENSP00000507624.1:p.Gln2134=
ENST00000683367.1:c.2177-7981G>A	ENSP00000507780.1:n.2177-7981G>A
ENST00000683489.1:c.2291+4120G>A	ENSP00000508403.1:n.2291+4120G>A
ENST00000683680.1:c.2318+4120G>A	ENSP00000507223.1:n.2318+4120G>A
ENST00000684163.1:c.2204-7981G>A	ENSP00000508262.1:n.2204-7981G>A
ENST00000684196.1:n.4543-7981G>A
ENST00000684325.1:c.2186-15791G>A	ENSP00000508121.1:n.2186-15791G>A
ENST00000684385.1:c.2221-7981G>A	ENSP00000507855.1:n.2221-7981G>A
ENST00000684497.1:c.2186-14821G>A	ENSP00000507057.1:n.2186-14821G>A
ENST00000382292.9:c.6411G>A MANE Select	ENSP00000371729.3:p.Gln2137=
ENST00000423156.2:c.2186-7981G>A	ENSP00000390925.2:n.2186-7981G>A
ENST00000455470.6:c.2431+3980G>A	ENSP00000406565.2:n.2431+3980G>A
ENST00000382292.7:c.6411G>A	ENSP00000371729.3:p.Gln2137=
ENST00000382298.7:c.6411G>A	ENSP00000371735.3:p.Gln2137=
ENST00000402364.1:c.4161G>A	ENSP00000385844.1:p.Gln1387=
ENST00000423156.1:c.1058-7981G>A	ENSP00000390925.1:n.1058-7981G>A
ENST00000455470.5:c.2129+3980G>A
NM_001278055.1:c.5970G>A	NP_001264984.1:p.Gln1990=
NM_014363.5:c.6411G>A	NP_055178.3:p.Gln2137=
XM_005266338.1:c.6438G>A	XP_005266395.1:p.Gln2146=
XM_011535038.1:c.6462G>A	XP_011533340.1:p.Gln2154=
XM_011535039.1:c.6429G>A	XP_011533341.1:p.Gln2143=
XM_005266338.2:c.6438G>A	XP_005266395.1:p.Gln2146=
XM_011535039.2:c.6429G>A	XP_011533341.1:p.Gln2143=
XM_017020539.1:c.6402G>A	XP_016876028.1:p.Gln2134=
XM_024449337.1:c.6438G>A	XP_024305105.1:p.Gln2146=
NM_014363.6:c.6411G>A MANE Select	NP_055178.3:p.Gln2137=
NM_001278055.2:c.5970G>A	NP_001264984.1:p.Gln1990=