Canonical Allele Identifier: CA387518517

Gene: SACS

Linked Data

• ClinVar Variation Id: 3065574
• ClinVar RCV Id: RCV003990651
• MyVariant Identifiers: chr13:g.23910350A>C (hg19) ; chr13:g.23336211A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336211A>C , CM000675.2:g.23336211A>C	GRCh38
NC_000013.10:g.23910350A>C , CM000675.1:g.23910350A>C	GRCh37
NC_000013.9:g.22808350A>C	NCBI36
NG_012342.1:g.102492T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+17574T>G	ENSP00000508399.1:n.2185+17574T>G
ENST00000682944.1:c.7692T>G	ENSP00000507173.1:p.Asp2564Glu
ENST00000683210.1:c.2185+17574T>G	ENSP00000506739.1:n.2185+17574T>G
ENST00000683270.1:c.6445+1211T>G	ENSP00000507624.1:n.6445+1211T>G
ENST00000683367.1:c.2177-6727T>G	ENSP00000507780.1:n.2177-6727T>G
ENST00000683489.1:c.2291+5374T>G	ENSP00000508403.1:n.2291+5374T>G
ENST00000683680.1:c.2318+5374T>G	ENSP00000507223.1:n.2318+5374T>G
ENST00000684163.1:c.2204-6727T>G	ENSP00000508262.1:n.2204-6727T>G
ENST00000684196.1:n.4543-6727T>G
ENST00000684325.1:c.2186-14537T>G	ENSP00000508121.1:n.2186-14537T>G
ENST00000684385.1:c.2221-6727T>G	ENSP00000507855.1:n.2221-6727T>G
ENST00000684497.1:c.2186-13567T>G	ENSP00000507057.1:n.2186-13567T>G
ENST00000382292.9:c.7665T>G MANE Select	ENSP00000371729.3:p.Asp2555Glu
ENST00000423156.2:c.2186-6727T>G	ENSP00000390925.2:n.2186-6727T>G
ENST00000455470.6:c.2431+5234T>G	ENSP00000406565.2:n.2431+5234T>G
ENST00000382292.7:c.7665T>G	ENSP00000371729.3:p.Asp2555Glu
ENST00000382298.7:c.7665T>G	ENSP00000371735.3:p.Asp2555Glu
ENST00000402364.1:c.5415T>G	ENSP00000385844.1:p.Asp1805Glu
ENST00000423156.1:c.1058-6727T>G	ENSP00000390925.1:n.1058-6727T>G
ENST00000455470.5:c.2129+5234T>G
NM_001278055.1:c.7224T>G	NP_001264984.1:p.Asp2408Glu
NM_014363.5:c.7665T>G	NP_055178.3:p.Asp2555Glu
XM_005266338.1:c.7692T>G	XP_005266395.1:p.Asp2564Glu
XM_011535038.1:c.7716T>G	XP_011533340.1:p.Asp2572Glu
XM_011535039.1:c.7683T>G	XP_011533341.1:p.Asp2561Glu
XM_005266338.2:c.7692T>G	XP_005266395.1:p.Asp2564Glu
XM_011535039.2:c.7683T>G	XP_011533341.1:p.Asp2561Glu
XM_017020539.1:c.7656T>G	XP_016876028.1:p.Asp2552Glu
XM_024449337.1:c.7692T>G	XP_024305105.1:p.Asp2564Glu
NM_014363.6:c.7665T>G MANE Select	NP_055178.3:p.Asp2555Glu
NM_001278055.2:c.7224T>G	NP_001264984.1:p.Asp2408Glu