Canonical Allele Identifier: CA6909981

Gene: SACS

Linked Data

• ClinVar Variation Id: 989609
• ClinVar RCV Id: RCV001277475 ; RCV001880227
• dbSNP Id: rs759847087
• ExAC: 13:23904695 C / T
• gnomAD v2: 13-23904695-C-T
• gnomAD v3: 13-23330556-C-T
• gnomAD v4: 13-23330556-C-T
• MyVariant Identifiers: chr13:g.23904695C>T (hg19) ; chr13:g.23330556C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330556C>T , CM000675.2:g.23330556C>T	GRCh38
NC_000013.10:g.23904695C>T , CM000675.1:g.23904695C>T	GRCh37
NC_000013.9:g.22802695C>T	NCBI36
NG_012342.1:g.108147G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18441G>A	ENSP00000508399.1:n.2186-18441G>A
ENST00000682944.1:c.13347G>A	ENSP00000507173.1:p.Ser4449=
ENST00000683210.1:c.2185+23229G>A	ENSP00000506739.1:n.2185+23229G>A
ENST00000683270.1:c.6446-1072G>A	ENSP00000507624.1:n.6446-1072G>A
ENST00000683367.1:c.2177-1072G>A	ENSP00000507780.1:n.2177-1072G>A
ENST00000683489.1:c.2292-604G>A	ENSP00000508403.1:n.2292-604G>A
ENST00000683680.1:c.2319-604G>A	ENSP00000507223.1:n.2319-604G>A
ENST00000684163.1:c.2204-1072G>A	ENSP00000508262.1:n.2204-1072G>A
ENST00000684196.1:n.4543-1072G>A
ENST00000684325.1:c.2186-8882G>A	ENSP00000508121.1:n.2186-8882G>A
ENST00000684385.1:c.2221-1072G>A	ENSP00000507855.1:n.2221-1072G>A
ENST00000684497.1:c.2186-7912G>A	ENSP00000507057.1:n.2186-7912G>A
ENST00000382292.9:c.13320G>A MANE Select	ENSP00000371729.3:p.Ser4440=
ENST00000423156.2:c.2186-1072G>A	ENSP00000390925.2:n.2186-1072G>A
ENST00000455470.6:c.2432-1072G>A	ENSP00000406565.2:n.2432-1072G>A
ENST00000382292.7:c.13320G>A	ENSP00000371729.3:p.Ser4440=
ENST00000382298.7:c.13320G>A	ENSP00000371735.3:p.Ser4440=
ENST00000402364.1:c.11070G>A	ENSP00000385844.1:p.Ser3690=
ENST00000423156.1:c.1058-1072G>A	ENSP00000390925.1:n.1058-1072G>A
ENST00000455470.5:c.2130-1072G>A
NM_001278055.1:c.12879G>A	NP_001264984.1:p.Ser4293=
NM_014363.5:c.13320G>A	NP_055178.3:p.Ser4440=
XM_005266338.1:c.13347G>A	XP_005266395.1:p.Ser4449=
XM_011535038.1:c.13371G>A	XP_011533340.1:p.Ser4457=
XM_011535039.1:c.13338G>A	XP_011533341.1:p.Ser4446=
XM_005266338.2:c.13347G>A	XP_005266395.1:p.Ser4449=
XM_011535039.2:c.13338G>A	XP_011533341.1:p.Ser4446=
XM_017020539.1:c.13311G>A	XP_016876028.1:p.Ser4437=
XM_024449337.1:c.13347G>A	XP_024305105.1:p.Ser4449=
NM_014363.6:c.13320G>A MANE Select	NP_055178.3:p.Ser4440=
NM_001278055.2:c.12879G>A	NP_001264984.1:p.Ser4293=