Canonical Allele Identifier: CA483160087

Gene: SACS

Linked Data

• ClinVar Variation Id: 2787988
• ClinVar RCV Id: RCV003751095
• MyVariant Identifiers: chr13:g.23909396A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23335257A>G , CM000675.2:g.23335257A>G	GRCh38
NC_000013.10:g.23909396A>G , CM000675.1:g.23909396A>G	GRCh37
NC_000013.9:g.22807396A>G	NCBI36
NG_012342.1:g.103446T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+18528T>C	ENSP00000508399.1:n.2185+18528T>C
ENST00000682944.1:c.8646T>C	ENSP00000507173.1:p.Leu2882=
ENST00000683210.1:c.2185+18528T>C	ENSP00000506739.1:n.2185+18528T>C
ENST00000683270.1:c.6445+2165T>C	ENSP00000507624.1:n.6445+2165T>C
ENST00000683367.1:c.2177-5773T>C	ENSP00000507780.1:n.2177-5773T>C
ENST00000683489.1:c.2292-5305T>C	ENSP00000508403.1:n.2292-5305T>C
ENST00000683680.1:c.2319-5305T>C	ENSP00000507223.1:n.2319-5305T>C
ENST00000684163.1:c.2204-5773T>C	ENSP00000508262.1:n.2204-5773T>C
ENST00000684196.1:n.4543-5773T>C
ENST00000684325.1:c.2186-13583T>C	ENSP00000508121.1:n.2186-13583T>C
ENST00000684385.1:c.2221-5773T>C	ENSP00000507855.1:n.2221-5773T>C
ENST00000684497.1:c.2186-12613T>C	ENSP00000507057.1:n.2186-12613T>C
ENST00000382292.9:c.8619T>C MANE Select	ENSP00000371729.3:p.Leu2873=
ENST00000423156.2:c.2186-5773T>C	ENSP00000390925.2:n.2186-5773T>C
ENST00000455470.6:c.2432-5773T>C	ENSP00000406565.2:n.2432-5773T>C
ENST00000382292.7:c.8619T>C	ENSP00000371729.3:p.Leu2873=
ENST00000382298.7:c.8619T>C	ENSP00000371735.3:p.Leu2873=
ENST00000402364.1:c.6369T>C	ENSP00000385844.1:p.Leu2123=
ENST00000423156.1:c.1058-5773T>C	ENSP00000390925.1:n.1058-5773T>C
ENST00000455470.5:c.2130-5773T>C
NM_001278055.1:c.8178T>C	NP_001264984.1:p.Leu2726=
NM_014363.5:c.8619T>C	NP_055178.3:p.Leu2873=
XM_005266338.1:c.8646T>C	XP_005266395.1:p.Leu2882=
XM_011535038.1:c.8670T>C	XP_011533340.1:p.Leu2890=
XM_011535039.1:c.8637T>C	XP_011533341.1:p.Leu2879=
XM_005266338.2:c.8646T>C	XP_005266395.1:p.Leu2882=
XM_011535039.2:c.8637T>C	XP_011533341.1:p.Leu2879=
XM_017020539.1:c.8610T>C	XP_016876028.1:p.Leu2870=
XM_024449337.1:c.8646T>C	XP_024305105.1:p.Leu2882=
NM_014363.6:c.8619T>C MANE Select	NP_055178.3:p.Leu2873=
NM_001278055.2:c.8178T>C	NP_001264984.1:p.Leu2726=