Canonical Allele Identifier: CA483161406

Gene: SACS

Linked Data

• ClinVar Variation Id: 1103410
• ClinVar RCV Id: RCV001427112
• dbSNP Id: rs1868695544
• gnomAD v4: 13-23337180-G-A
• MyVariant Identifiers: chr13:g.23911319G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337180G>A , CM000675.2:g.23337180G>A	GRCh38
NC_000013.10:g.23911319G>A , CM000675.1:g.23911319G>A	GRCh37
NC_000013.9:g.22809319G>A	NCBI36
NG_012342.1:g.101523C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16605C>T	ENSP00000508399.1:n.2185+16605C>T
ENST00000682944.1:c.6723C>T	ENSP00000507173.1:p.Asn2241=
ENST00000683210.1:c.2185+16605C>T	ENSP00000506739.1:n.2185+16605C>T
ENST00000683270.1:c.6445+242C>T	ENSP00000507624.1:n.6445+242C>T
ENST00000683367.1:c.2177-7696C>T	ENSP00000507780.1:n.2177-7696C>T
ENST00000683489.1:c.2291+4405C>T	ENSP00000508403.1:n.2291+4405C>T
ENST00000683680.1:c.2318+4405C>T	ENSP00000507223.1:n.2318+4405C>T
ENST00000684163.1:c.2204-7696C>T	ENSP00000508262.1:n.2204-7696C>T
ENST00000684196.1:n.4543-7696C>T
ENST00000684325.1:c.2186-15506C>T	ENSP00000508121.1:n.2186-15506C>T
ENST00000684385.1:c.2221-7696C>T	ENSP00000507855.1:n.2221-7696C>T
ENST00000684497.1:c.2186-14536C>T	ENSP00000507057.1:n.2186-14536C>T
ENST00000382292.9:c.6696C>T MANE Select	ENSP00000371729.3:p.Asn2232=
ENST00000423156.2:c.2186-7696C>T	ENSP00000390925.2:n.2186-7696C>T
ENST00000455470.6:c.2431+4265C>T	ENSP00000406565.2:n.2431+4265C>T
ENST00000382292.7:c.6696C>T	ENSP00000371729.3:p.Asn2232=
ENST00000382298.7:c.6696C>T	ENSP00000371735.3:p.Asn2232=
ENST00000402364.1:c.4446C>T	ENSP00000385844.1:p.Asn1482=
ENST00000423156.1:c.1058-7696C>T	ENSP00000390925.1:n.1058-7696C>T
ENST00000455470.5:c.2129+4265C>T
NM_001278055.1:c.6255C>T	NP_001264984.1:p.Asn2085=
NM_014363.5:c.6696C>T	NP_055178.3:p.Asn2232=
XM_005266338.1:c.6723C>T	XP_005266395.1:p.Asn2241=
XM_011535038.1:c.6747C>T	XP_011533340.1:p.Asn2249=
XM_011535039.1:c.6714C>T	XP_011533341.1:p.Asn2238=
XM_005266338.2:c.6723C>T	XP_005266395.1:p.Asn2241=
XM_011535039.2:c.6714C>T	XP_011533341.1:p.Asn2238=
XM_017020539.1:c.6687C>T	XP_016876028.1:p.Asn2229=
XM_024449337.1:c.6723C>T	XP_024305105.1:p.Asn2241=
NM_014363.6:c.6696C>T MANE Select	NP_055178.3:p.Asn2232=
NM_001278055.2:c.6255C>T	NP_001264984.1:p.Asn2085=