Canonical Allele Identifier: CA387531824

Gene: SACS

Linked Data

• ClinVar Variation Id: 450250
• ClinVar RCV Id: RCV000521561 ; RCV000984213 ; RCV001064306
• dbSNP Id: rs867249938
• gnomAD v4: 13-23339644-A-C
• MyVariant Identifiers: chr13:g.23913783A>C (hg19) ; chr13:g.23339644A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23339644A>C , CM000675.2:g.23339644A>C	GRCh38
NC_000013.10:g.23913783A>C , CM000675.1:g.23913783A>C	GRCh37
NC_000013.9:g.22811783A>C	NCBI36
NG_012342.1:g.99059T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+14141T>G	ENSP00000508399.1:n.2185+14141T>G
ENST00000682944.1:c.4259T>G	ENSP00000507173.1:p.Leu1420Ter
ENST00000683210.1:c.2185+14141T>G	ENSP00000506739.1:n.2185+14141T>G
ENST00000683270.1:c.4223T>G	ENSP00000507624.1:p.Leu1408Ter
ENST00000683367.1:c.2177-10160T>G	ENSP00000507780.1:n.2177-10160T>G
ENST00000683489.1:c.2291+1941T>G	ENSP00000508403.1:n.2291+1941T>G
ENST00000683680.1:c.2318+1941T>G	ENSP00000507223.1:n.2318+1941T>G
ENST00000684163.1:c.2203+7167T>G	ENSP00000508262.1:n.2203+7167T>G
ENST00000684196.1:n.4543-10160T>G
ENST00000684325.1:c.2185+14141T>G	ENSP00000508121.1:n.2185+14141T>G
ENST00000684385.1:c.2220+7167T>G	ENSP00000507855.1:n.2220+7167T>G
ENST00000684497.1:c.2185+14141T>G	ENSP00000507057.1:n.2185+14141T>G
ENST00000382292.9:c.4232T>G MANE Select	ENSP00000371729.3:p.Leu1411Ter
ENST00000423156.2:c.2186-10160T>G	ENSP00000390925.2:n.2186-10160T>G
ENST00000455470.6:c.2431+1801T>G	ENSP00000406565.2:n.2431+1801T>G
ENST00000382292.7:c.4232T>G	ENSP00000371729.3:p.Leu1411Ter
ENST00000382298.7:c.4232T>G	ENSP00000371735.3:p.Leu1411Ter
ENST00000402364.1:c.1982T>G	ENSP00000385844.1:p.Leu661Ter
ENST00000423156.1:c.1058-10160T>G	ENSP00000390925.1:n.1058-10160T>G
ENST00000455470.5:c.2129+1801T>G
NM_001278055.1:c.3791T>G	NP_001264984.1:p.Leu1264Ter
NM_014363.5:c.4232T>G	NP_055178.3:p.Leu1411Ter
XM_005266338.1:c.4259T>G	XP_005266395.1:p.Leu1420Ter
XM_011535038.1:c.4283T>G	XP_011533340.1:p.Leu1428Ter
XM_011535039.1:c.4250T>G	XP_011533341.1:p.Leu1417Ter
XM_005266338.2:c.4259T>G	XP_005266395.1:p.Leu1420Ter
XM_011535039.2:c.4250T>G	XP_011533341.1:p.Leu1417Ter
XM_017020539.1:c.4223T>G	XP_016876028.1:p.Leu1408Ter
XM_024449337.1:c.4259T>G	XP_024305105.1:p.Leu1420Ter
NM_014363.6:c.4232T>G MANE Select	NP_055178.3:p.Leu1411Ter
NM_001278055.2:c.3791T>G	NP_001264984.1:p.Leu1264Ter