Canonical Allele Identifier: CA6911426

Gene: SACS

Linked Data

• ClinVar Variation Id: 527980
• ClinVar RCV Id: RCV000633019 ; RCV001275197
• dbSNP Id: rs749219225
• ExAC: 13:23913866 A / G
• gnomAD v2: 13-23913866-A-G
• gnomAD v3: 13-23339727-A-G
• gnomAD v4: 13-23339727-A-G
• MyVariant Identifiers: chr13:g.23913866A>G (hg19) ; chr13:g.23339727A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23339727A>G , CM000675.2:g.23339727A>G	GRCh38
NC_000013.10:g.23913866A>G , CM000675.1:g.23913866A>G	GRCh37
NC_000013.9:g.22811866A>G	NCBI36
NG_012342.1:g.98976T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+14058T>C	ENSP00000508399.1:n.2185+14058T>C
ENST00000682944.1:c.4176T>C	ENSP00000507173.1:p.His1392=
ENST00000683210.1:c.2185+14058T>C	ENSP00000506739.1:n.2185+14058T>C
ENST00000683270.1:c.4140T>C	ENSP00000507624.1:p.His1380=
ENST00000683367.1:c.2177-10243T>C	ENSP00000507780.1:n.2177-10243T>C
ENST00000683489.1:c.2291+1858T>C	ENSP00000508403.1:n.2291+1858T>C
ENST00000683680.1:c.2318+1858T>C	ENSP00000507223.1:n.2318+1858T>C
ENST00000684163.1:c.2203+7084T>C	ENSP00000508262.1:n.2203+7084T>C
ENST00000684196.1:n.4543-10243T>C
ENST00000684325.1:c.2185+14058T>C	ENSP00000508121.1:n.2185+14058T>C
ENST00000684385.1:c.2220+7084T>C	ENSP00000507855.1:n.2220+7084T>C
ENST00000684497.1:c.2185+14058T>C	ENSP00000507057.1:n.2185+14058T>C
ENST00000382292.9:c.4149T>C MANE Select	ENSP00000371729.3:p.His1383=
ENST00000423156.2:c.2186-10243T>C	ENSP00000390925.2:n.2186-10243T>C
ENST00000455470.6:c.2431+1718T>C	ENSP00000406565.2:n.2431+1718T>C
ENST00000382292.7:c.4149T>C	ENSP00000371729.3:p.His1383=
ENST00000382298.7:c.4149T>C	ENSP00000371735.3:p.His1383=
ENST00000402364.1:c.1899T>C	ENSP00000385844.1:p.His633=
ENST00000423156.1:c.1058-10243T>C	ENSP00000390925.1:n.1058-10243T>C
ENST00000455470.5:c.2129+1718T>C
NM_001278055.1:c.3708T>C	NP_001264984.1:p.His1236=
NM_014363.5:c.4149T>C	NP_055178.3:p.His1383=
XM_005266338.1:c.4176T>C	XP_005266395.1:p.His1392=
XM_011535038.1:c.4200T>C	XP_011533340.1:p.His1400=
XM_011535039.1:c.4167T>C	XP_011533341.1:p.His1389=
XM_005266338.2:c.4176T>C	XP_005266395.1:p.His1392=
XM_011535039.2:c.4167T>C	XP_011533341.1:p.His1389=
XM_017020539.1:c.4140T>C	XP_016876028.1:p.His1380=
XM_024449337.1:c.4176T>C	XP_024305105.1:p.His1392=
NM_014363.6:c.4149T>C MANE Select	NP_055178.3:p.His1383=
NM_001278055.2:c.3708T>C	NP_001264984.1:p.His1236=