Canonical Allele Identifier: CA387521725

Gene: SACS

Linked Data

• gnomAD v4: 13-23337407-C-A
• COSMIC: COSM4391198 ; COSM4391199
• MyVariant Identifiers: chr13:g.23911546C>A (hg19) ; chr13:g.23337407C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337407C>A , CM000675.2:g.23337407C>A	GRCh38
NC_000013.10:g.23911546C>A , CM000675.1:g.23911546C>A	GRCh37
NC_000013.9:g.22809546C>A	NCBI36
NG_012342.1:g.101296G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16378G>T	ENSP00000508399.1:n.2185+16378G>T
ENST00000682944.1:c.6496G>T	ENSP00000507173.1:p.Asp2166Tyr
ENST00000683210.1:c.2185+16378G>T	ENSP00000506739.1:n.2185+16378G>T
ENST00000683270.1:c.6445+15G>T	ENSP00000507624.1:n.6445+15G>T
ENST00000683367.1:c.2177-7923G>T	ENSP00000507780.1:n.2177-7923G>T
ENST00000683489.1:c.2291+4178G>T	ENSP00000508403.1:n.2291+4178G>T
ENST00000683680.1:c.2318+4178G>T	ENSP00000507223.1:n.2318+4178G>T
ENST00000684163.1:c.2204-7923G>T	ENSP00000508262.1:n.2204-7923G>T
ENST00000684196.1:n.4543-7923G>T
ENST00000684325.1:c.2186-15733G>T	ENSP00000508121.1:n.2186-15733G>T
ENST00000684385.1:c.2221-7923G>T	ENSP00000507855.1:n.2221-7923G>T
ENST00000684497.1:c.2186-14763G>T	ENSP00000507057.1:n.2186-14763G>T
ENST00000382292.9:c.6469G>T MANE Select	ENSP00000371729.3:p.Asp2157Tyr
ENST00000423156.2:c.2186-7923G>T	ENSP00000390925.2:n.2186-7923G>T
ENST00000455470.6:c.2431+4038G>T	ENSP00000406565.2:n.2431+4038G>T
ENST00000382292.7:c.6469G>T	ENSP00000371729.3:p.Asp2157Tyr
ENST00000382298.7:c.6469G>T	ENSP00000371735.3:p.Asp2157Tyr
ENST00000402364.1:c.4219G>T	ENSP00000385844.1:p.Asp1407Tyr
ENST00000423156.1:c.1058-7923G>T	ENSP00000390925.1:n.1058-7923G>T
ENST00000455470.5:c.2129+4038G>T
NM_001278055.1:c.6028G>T	NP_001264984.1:p.Asp2010Tyr
NM_014363.5:c.6469G>T	NP_055178.3:p.Asp2157Tyr
XM_005266338.1:c.6496G>T	XP_005266395.1:p.Asp2166Tyr
XM_011535038.1:c.6520G>T	XP_011533340.1:p.Asp2174Tyr
XM_011535039.1:c.6487G>T	XP_011533341.1:p.Asp2163Tyr
XM_005266338.2:c.6496G>T	XP_005266395.1:p.Asp2166Tyr
XM_011535039.2:c.6487G>T	XP_011533341.1:p.Asp2163Tyr
XM_017020539.1:c.6460G>T	XP_016876028.1:p.Asp2154Tyr
XM_024449337.1:c.6496G>T	XP_024305105.1:p.Asp2166Tyr
NM_014363.6:c.6469G>T MANE Select	NP_055178.3:p.Asp2157Tyr
NM_001278055.2:c.6028G>T	NP_001264984.1:p.Asp2010Tyr