Canonical Allele Identifier: CA6910126

Gene: SACS

Linked Data

• ClinVar Variation Id: 1114330
• ClinVar RCV Id: RCV001441983
• dbSNP Id: rs770163213
• ExAC: 13:23905412 G / A
• gnomAD v2: 13-23905412-G-A
• gnomAD v3: 13-23331273-G-A
• gnomAD v4: 13-23331273-G-A
• MyVariant Identifiers: chr13:g.23905412G>A (hg19) ; chr13:g.23331273G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23331273G>A , CM000675.2:g.23331273G>A	GRCh38
NC_000013.10:g.23905412G>A , CM000675.1:g.23905412G>A	GRCh37
NC_000013.9:g.22803412G>A	NCBI36
NG_012342.1:g.107430C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-19158C>T	ENSP00000508399.1:n.2186-19158C>T
ENST00000682944.1:c.12630C>T	ENSP00000507173.1:p.Tyr4210=
ENST00000683210.1:c.2185+22512C>T	ENSP00000506739.1:n.2185+22512C>T
ENST00000683270.1:c.6446-1789C>T	ENSP00000507624.1:n.6446-1789C>T
ENST00000683367.1:c.2177-1789C>T	ENSP00000507780.1:n.2177-1789C>T
ENST00000683489.1:c.2292-1321C>T	ENSP00000508403.1:n.2292-1321C>T
ENST00000683680.1:c.2319-1321C>T	ENSP00000507223.1:n.2319-1321C>T
ENST00000684163.1:c.2204-1789C>T	ENSP00000508262.1:n.2204-1789C>T
ENST00000684196.1:n.4543-1789C>T
ENST00000684325.1:c.2186-9599C>T	ENSP00000508121.1:n.2186-9599C>T
ENST00000684385.1:c.2221-1789C>T	ENSP00000507855.1:n.2221-1789C>T
ENST00000684497.1:c.2186-8629C>T	ENSP00000507057.1:n.2186-8629C>T
ENST00000382292.9:c.12603C>T MANE Select	ENSP00000371729.3:p.Tyr4201=
ENST00000423156.2:c.2186-1789C>T	ENSP00000390925.2:n.2186-1789C>T
ENST00000455470.6:c.2432-1789C>T	ENSP00000406565.2:n.2432-1789C>T
ENST00000382292.7:c.12603C>T	ENSP00000371729.3:p.Tyr4201=
ENST00000382298.7:c.12603C>T	ENSP00000371735.3:p.Tyr4201=
ENST00000402364.1:c.10353C>T	ENSP00000385844.1:p.Tyr3451=
ENST00000423156.1:c.1058-1789C>T	ENSP00000390925.1:n.1058-1789C>T
ENST00000455470.5:c.2130-1789C>T
NM_001278055.1:c.12162C>T	NP_001264984.1:p.Tyr4054=
NM_014363.5:c.12603C>T	NP_055178.3:p.Tyr4201=
XM_005266338.1:c.12630C>T	XP_005266395.1:p.Tyr4210=
XM_011535038.1:c.12654C>T	XP_011533340.1:p.Tyr4218=
XM_011535039.1:c.12621C>T	XP_011533341.1:p.Tyr4207=
XM_005266338.2:c.12630C>T	XP_005266395.1:p.Tyr4210=
XM_011535039.2:c.12621C>T	XP_011533341.1:p.Tyr4207=
XM_017020539.1:c.12594C>T	XP_016876028.1:p.Tyr4198=
XM_024449337.1:c.12630C>T	XP_024305105.1:p.Tyr4210=
NM_014363.6:c.12603C>T MANE Select	NP_055178.3:p.Tyr4201=
NM_001278055.2:c.12162C>T	NP_001264984.1:p.Tyr4054=