Canonical Allele Identifier: CA483160431

Gene: SACS

Linked Data

• ClinVar Variation Id: 1628947
• ClinVar RCV Id: RCV002125390
• dbSNP Id: rs2137586200
• gnomAD v4: 13-23334693-G-A
• COSMIC: COSM3467709 ; COSM3467710
• MyVariant Identifiers: chr13:g.23908832G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334693G>A , CM000675.2:g.23334693G>A	GRCh38
NC_000013.10:g.23908832G>A , CM000675.1:g.23908832G>A	GRCh37
NC_000013.9:g.22806832G>A	NCBI36
NG_012342.1:g.104010C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+19092C>T	ENSP00000508399.1:n.2185+19092C>T
ENST00000682944.1:c.9210C>T	ENSP00000507173.1:p.Leu3070=
ENST00000683210.1:c.2185+19092C>T	ENSP00000506739.1:n.2185+19092C>T
ENST00000683270.1:c.6445+2729C>T	ENSP00000507624.1:n.6445+2729C>T
ENST00000683367.1:c.2177-5209C>T	ENSP00000507780.1:n.2177-5209C>T
ENST00000683489.1:c.2292-4741C>T	ENSP00000508403.1:n.2292-4741C>T
ENST00000683680.1:c.2319-4741C>T	ENSP00000507223.1:n.2319-4741C>T
ENST00000684163.1:c.2204-5209C>T	ENSP00000508262.1:n.2204-5209C>T
ENST00000684196.1:n.4543-5209C>T
ENST00000684325.1:c.2186-13019C>T	ENSP00000508121.1:n.2186-13019C>T
ENST00000684385.1:c.2221-5209C>T	ENSP00000507855.1:n.2221-5209C>T
ENST00000684497.1:c.2186-12049C>T	ENSP00000507057.1:n.2186-12049C>T
ENST00000382292.9:c.9183C>T MANE Select	ENSP00000371729.3:p.Leu3061=
ENST00000423156.2:c.2186-5209C>T	ENSP00000390925.2:n.2186-5209C>T
ENST00000455470.6:c.2432-5209C>T	ENSP00000406565.2:n.2432-5209C>T
ENST00000382292.7:c.9183C>T	ENSP00000371729.3:p.Leu3061=
ENST00000382298.7:c.9183C>T	ENSP00000371735.3:p.Leu3061=
ENST00000402364.1:c.6933C>T	ENSP00000385844.1:p.Leu2311=
ENST00000423156.1:c.1058-5209C>T	ENSP00000390925.1:n.1058-5209C>T
ENST00000455470.5:c.2130-5209C>T
NM_001278055.1:c.8742C>T	NP_001264984.1:p.Leu2914=
NM_014363.5:c.9183C>T	NP_055178.3:p.Leu3061=
XM_005266338.1:c.9210C>T	XP_005266395.1:p.Leu3070=
XM_011535038.1:c.9234C>T	XP_011533340.1:p.Leu3078=
XM_011535039.1:c.9201C>T	XP_011533341.1:p.Leu3067=
XM_005266338.2:c.9210C>T	XP_005266395.1:p.Leu3070=
XM_011535039.2:c.9201C>T	XP_011533341.1:p.Leu3067=
XM_017020539.1:c.9174C>T	XP_016876028.1:p.Leu3058=
XM_024449337.1:c.9210C>T	XP_024305105.1:p.Leu3070=
NM_014363.6:c.9183C>T MANE Select	NP_055178.3:p.Leu3061=
NM_001278055.2:c.8742C>T	NP_001264984.1:p.Leu2914=