Canonical Allele Identifier: CA483159322

Gene: SACS

Linked Data

• ClinVar Variation Id: 1104273
• ClinVar RCV Id: RCV001428262
• dbSNP Id: rs1883575247
• gnomAD v3: 13-23332839-A-G
• gnomAD v4: 13-23332839-A-G
• MyVariant Identifiers: chr13:g.23906978A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23332839A>G , CM000675.2:g.23332839A>G	GRCh38
NC_000013.10:g.23906978A>G , CM000675.1:g.23906978A>G	GRCh37
NC_000013.9:g.22804978A>G	NCBI36
NG_012342.1:g.105864T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-20724T>C	ENSP00000508399.1:n.2186-20724T>C
ENST00000682944.1:c.11064T>C	ENSP00000507173.1:p.Leu3688=
ENST00000683210.1:c.2185+20946T>C	ENSP00000506739.1:n.2185+20946T>C
ENST00000683270.1:c.6446-3355T>C	ENSP00000507624.1:n.6446-3355T>C
ENST00000683367.1:c.2177-3355T>C	ENSP00000507780.1:n.2177-3355T>C
ENST00000683489.1:c.2292-2887T>C	ENSP00000508403.1:n.2292-2887T>C
ENST00000683680.1:c.2319-2887T>C	ENSP00000507223.1:n.2319-2887T>C
ENST00000684163.1:c.2204-3355T>C	ENSP00000508262.1:n.2204-3355T>C
ENST00000684196.1:n.4543-3355T>C
ENST00000684325.1:c.2186-11165T>C	ENSP00000508121.1:n.2186-11165T>C
ENST00000684385.1:c.2221-3355T>C	ENSP00000507855.1:n.2221-3355T>C
ENST00000684497.1:c.2186-10195T>C	ENSP00000507057.1:n.2186-10195T>C
ENST00000382292.9:c.11037T>C MANE Select	ENSP00000371729.3:p.Leu3679=
ENST00000423156.2:c.2186-3355T>C	ENSP00000390925.2:n.2186-3355T>C
ENST00000455470.6:c.2432-3355T>C	ENSP00000406565.2:n.2432-3355T>C
ENST00000382292.7:c.11037T>C	ENSP00000371729.3:p.Leu3679=
ENST00000382298.7:c.11037T>C	ENSP00000371735.3:p.Leu3679=
ENST00000402364.1:c.8787T>C	ENSP00000385844.1:p.Leu2929=
ENST00000423156.1:c.1058-3355T>C	ENSP00000390925.1:n.1058-3355T>C
ENST00000455470.5:c.2130-3355T>C
NM_001278055.1:c.10596T>C	NP_001264984.1:p.Leu3532=
NM_014363.5:c.11037T>C	NP_055178.3:p.Leu3679=
XM_005266338.1:c.11064T>C	XP_005266395.1:p.Leu3688=
XM_011535038.1:c.11088T>C	XP_011533340.1:p.Leu3696=
XM_011535039.1:c.11055T>C	XP_011533341.1:p.Leu3685=
XM_005266338.2:c.11064T>C	XP_005266395.1:p.Leu3688=
XM_011535039.2:c.11055T>C	XP_011533341.1:p.Leu3685=
XM_017020539.1:c.11028T>C	XP_016876028.1:p.Leu3676=
XM_024449337.1:c.11064T>C	XP_024305105.1:p.Leu3688=
NM_014363.6:c.11037T>C MANE Select	NP_055178.3:p.Leu3679=
NM_001278055.2:c.10596T>C	NP_001264984.1:p.Leu3532=