Canonical Allele Identifier: CA387518712

Gene: SACS

Linked Data

• ClinVar Variation Id: 1339015
• ClinVar RCV Id: RCV001823469
• dbSNP Id: rs2137599038
• MyVariant Identifiers: chr13:g.23910432A>C (hg19) ; chr13:g.23336293A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336293A>C , CM000675.2:g.23336293A>C	GRCh38
NC_000013.10:g.23910432A>C , CM000675.1:g.23910432A>C	GRCh37
NC_000013.9:g.22808432A>C	NCBI36
NG_012342.1:g.102410T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+17492T>G	ENSP00000508399.1:n.2185+17492T>G
ENST00000682944.1:c.7610T>G	ENSP00000507173.1:p.Leu2537Trp
ENST00000683210.1:c.2185+17492T>G	ENSP00000506739.1:n.2185+17492T>G
ENST00000683270.1:c.6445+1129T>G	ENSP00000507624.1:n.6445+1129T>G
ENST00000683367.1:c.2177-6809T>G	ENSP00000507780.1:n.2177-6809T>G
ENST00000683489.1:c.2291+5292T>G	ENSP00000508403.1:n.2291+5292T>G
ENST00000683680.1:c.2318+5292T>G	ENSP00000507223.1:n.2318+5292T>G
ENST00000684163.1:c.2204-6809T>G	ENSP00000508262.1:n.2204-6809T>G
ENST00000684196.1:n.4543-6809T>G
ENST00000684325.1:c.2186-14619T>G	ENSP00000508121.1:n.2186-14619T>G
ENST00000684385.1:c.2221-6809T>G	ENSP00000507855.1:n.2221-6809T>G
ENST00000684497.1:c.2186-13649T>G	ENSP00000507057.1:n.2186-13649T>G
ENST00000382292.9:c.7583T>G MANE Select	ENSP00000371729.3:p.Leu2528Trp
ENST00000423156.2:c.2186-6809T>G	ENSP00000390925.2:n.2186-6809T>G
ENST00000455470.6:c.2431+5152T>G	ENSP00000406565.2:n.2431+5152T>G
ENST00000382292.7:c.7583T>G	ENSP00000371729.3:p.Leu2528Trp
ENST00000382298.7:c.7583T>G	ENSP00000371735.3:p.Leu2528Trp
ENST00000402364.1:c.5333T>G	ENSP00000385844.1:p.Leu1778Trp
ENST00000423156.1:c.1058-6809T>G	ENSP00000390925.1:n.1058-6809T>G
ENST00000455470.5:c.2129+5152T>G
NM_001278055.1:c.7142T>G	NP_001264984.1:p.Leu2381Trp
NM_014363.5:c.7583T>G	NP_055178.3:p.Leu2528Trp
XM_005266338.1:c.7610T>G	XP_005266395.1:p.Leu2537Trp
XM_011535038.1:c.7634T>G	XP_011533340.1:p.Leu2545Trp
XM_011535039.1:c.7601T>G	XP_011533341.1:p.Leu2534Trp
XM_005266338.2:c.7610T>G	XP_005266395.1:p.Leu2537Trp
XM_011535039.2:c.7601T>G	XP_011533341.1:p.Leu2534Trp
XM_017020539.1:c.7574T>G	XP_016876028.1:p.Leu2525Trp
XM_024449337.1:c.7610T>G	XP_024305105.1:p.Leu2537Trp
NM_014363.6:c.7583T>G MANE Select	NP_055178.3:p.Leu2528Trp
NM_001278055.2:c.7142T>G	NP_001264984.1:p.Leu2381Trp