Canonical Allele Identifier: CA155040

Gene: SACS

Linked Data

• ClinVar Variation Id: 130201
• ClinVar RCV Id: RCV000118230 ; RCV000325147 ; RCV000676348 ; RCV001517093 ; RCV001847718
• dbSNP Id: rs2737699
• ExAC: 13:23905711 A / G
• gnomAD v2: 13-23905711-A-G
• gnomAD v3: 13-23331572-A-G
• gnomAD v4: 13-23331572-A-G
• MyVariant Identifiers: chr13:g.23905711A>G (hg19) ; chr13:g.23331572A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23331572A>G , CM000675.2:g.23331572A>G	GRCh38
NC_000013.10:g.23905711A>G , CM000675.1:g.23905711A>G	GRCh37
NC_000013.9:g.22803711A>G	NCBI36
NG_012342.1:g.107131T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-19457T>C	ENSP00000508399.1:n.2186-19457T>C
ENST00000682944.1:c.12331T>C	ENSP00000507173.1:p.Leu4111=
ENST00000683210.1:c.2185+22213T>C	ENSP00000506739.1:n.2185+22213T>C
ENST00000683270.1:c.6446-2088T>C	ENSP00000507624.1:n.6446-2088T>C
ENST00000683367.1:c.2177-2088T>C	ENSP00000507780.1:n.2177-2088T>C
ENST00000683489.1:c.2292-1620T>C	ENSP00000508403.1:n.2292-1620T>C
ENST00000683680.1:c.2319-1620T>C	ENSP00000507223.1:n.2319-1620T>C
ENST00000684163.1:c.2204-2088T>C	ENSP00000508262.1:n.2204-2088T>C
ENST00000684196.1:n.4543-2088T>C
ENST00000684325.1:c.2186-9898T>C	ENSP00000508121.1:n.2186-9898T>C
ENST00000684385.1:c.2221-2088T>C	ENSP00000507855.1:n.2221-2088T>C
ENST00000684497.1:c.2186-8928T>C	ENSP00000507057.1:n.2186-8928T>C
ENST00000382292.9:c.12304T>C MANE Select	ENSP00000371729.3:p.Leu4102=
ENST00000423156.2:c.2186-2088T>C	ENSP00000390925.2:n.2186-2088T>C
ENST00000455470.6:c.2432-2088T>C	ENSP00000406565.2:n.2432-2088T>C
ENST00000382292.7:c.12304T>C	ENSP00000371729.3:p.Leu4102=
ENST00000382298.7:c.12304T>C	ENSP00000371735.3:p.Leu4102=
ENST00000402364.1:c.10054T>C	ENSP00000385844.1:p.Leu3352=
ENST00000423156.1:c.1058-2088T>C	ENSP00000390925.1:n.1058-2088T>C
ENST00000455470.5:c.2130-2088T>C
NM_001278055.1:c.11863T>C	NP_001264984.1:p.Leu3955=
NM_014363.5:c.12304T>C	NP_055178.3:p.Leu4102=
XM_005266338.1:c.12331T>C	XP_005266395.1:p.Leu4111=
XM_011535038.1:c.12355T>C	XP_011533340.1:p.Leu4119=
XM_011535039.1:c.12322T>C	XP_011533341.1:p.Leu4108=
XM_005266338.2:c.12331T>C	XP_005266395.1:p.Leu4111=
XM_011535039.2:c.12322T>C	XP_011533341.1:p.Leu4108=
XM_017020539.1:c.12295T>C	XP_016876028.1:p.Leu4099=
XM_024449337.1:c.12331T>C	XP_024305105.1:p.Leu4111=
NM_014363.6:c.12304T>C MANE Select	NP_055178.3:p.Leu4102=
NM_001278055.2:c.11863T>C	NP_001264984.1:p.Leu3955=