Canonical Allele Identifier: CA483158761

Gene: SACS

Linked Data

• ClinVar Variation Id: 1984657
• ClinVar RCV Id: RCV002800328
• MyVariant Identifiers: chr13:g.23907131A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23332992A>G , CM000675.2:g.23332992A>G	GRCh38
NC_000013.10:g.23907131A>G , CM000675.1:g.23907131A>G	GRCh37
NC_000013.9:g.22805131A>G	NCBI36
NG_012342.1:g.105711T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+20793T>C	ENSP00000508399.1:n.2185+20793T>C
ENST00000682944.1:c.10911T>C	ENSP00000507173.1:p.Leu3637=
ENST00000683210.1:c.2185+20793T>C	ENSP00000506739.1:n.2185+20793T>C
ENST00000683270.1:c.6446-3508T>C	ENSP00000507624.1:n.6446-3508T>C
ENST00000683367.1:c.2177-3508T>C	ENSP00000507780.1:n.2177-3508T>C
ENST00000683489.1:c.2292-3040T>C	ENSP00000508403.1:n.2292-3040T>C
ENST00000683680.1:c.2319-3040T>C	ENSP00000507223.1:n.2319-3040T>C
ENST00000684163.1:c.2204-3508T>C	ENSP00000508262.1:n.2204-3508T>C
ENST00000684196.1:n.4543-3508T>C
ENST00000684325.1:c.2186-11318T>C	ENSP00000508121.1:n.2186-11318T>C
ENST00000684385.1:c.2221-3508T>C	ENSP00000507855.1:n.2221-3508T>C
ENST00000684497.1:c.2186-10348T>C	ENSP00000507057.1:n.2186-10348T>C
ENST00000382292.9:c.10884T>C MANE Select	ENSP00000371729.3:p.Leu3628=
ENST00000423156.2:c.2186-3508T>C	ENSP00000390925.2:n.2186-3508T>C
ENST00000455470.6:c.2432-3508T>C	ENSP00000406565.2:n.2432-3508T>C
ENST00000382292.7:c.10884T>C	ENSP00000371729.3:p.Leu3628=
ENST00000382298.7:c.10884T>C	ENSP00000371735.3:p.Leu3628=
ENST00000402364.1:c.8634T>C	ENSP00000385844.1:p.Leu2878=
ENST00000423156.1:c.1058-3508T>C	ENSP00000390925.1:n.1058-3508T>C
ENST00000455470.5:c.2130-3508T>C
NM_001278055.1:c.10443T>C	NP_001264984.1:p.Leu3481=
NM_014363.5:c.10884T>C	NP_055178.3:p.Leu3628=
XM_005266338.1:c.10911T>C	XP_005266395.1:p.Leu3637=
XM_011535038.1:c.10935T>C	XP_011533340.1:p.Leu3645=
XM_011535039.1:c.10902T>C	XP_011533341.1:p.Leu3634=
XM_005266338.2:c.10911T>C	XP_005266395.1:p.Leu3637=
XM_011535039.2:c.10902T>C	XP_011533341.1:p.Leu3634=
XM_017020539.1:c.10875T>C	XP_016876028.1:p.Leu3625=
XM_024449337.1:c.10911T>C	XP_024305105.1:p.Leu3637=
NM_014363.6:c.10884T>C MANE Select	NP_055178.3:p.Leu3628=
NM_001278055.2:c.10443T>C	NP_001264984.1:p.Leu3481=