Canonical Allele Identifier: CA387521968

Gene: SACS

Linked Data

• ClinVar Variation Id: 551526
• ClinVar RCV Id: RCV000666608
• dbSNP Id: rs201690040
• MyVariant Identifiers: chr13:g.23911606G>A (hg19) ; chr13:g.23337467G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337467G>A , CM000675.2:g.23337467G>A	GRCh38
NC_000013.10:g.23911606G>A , CM000675.1:g.23911606G>A	GRCh37
NC_000013.9:g.22809606G>A	NCBI36
NG_012342.1:g.101236C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16318C>T	ENSP00000508399.1:n.2185+16318C>T
ENST00000682944.1:c.6436C>T	ENSP00000507173.1:p.Gln2146Ter
ENST00000683210.1:c.2185+16318C>T	ENSP00000506739.1:n.2185+16318C>T
ENST00000683270.1:c.6400C>T	ENSP00000507624.1:p.Gln2134Ter
ENST00000683367.1:c.2177-7983C>T	ENSP00000507780.1:n.2177-7983C>T
ENST00000683489.1:c.2291+4118C>T	ENSP00000508403.1:n.2291+4118C>T
ENST00000683680.1:c.2318+4118C>T	ENSP00000507223.1:n.2318+4118C>T
ENST00000684163.1:c.2204-7983C>T	ENSP00000508262.1:n.2204-7983C>T
ENST00000684196.1:n.4543-7983C>T
ENST00000684325.1:c.2186-15793C>T	ENSP00000508121.1:n.2186-15793C>T
ENST00000684385.1:c.2221-7983C>T	ENSP00000507855.1:n.2221-7983C>T
ENST00000684497.1:c.2186-14823C>T	ENSP00000507057.1:n.2186-14823C>T
ENST00000382292.9:c.6409C>T MANE Select	ENSP00000371729.3:p.Gln2137Ter
ENST00000423156.2:c.2186-7983C>T	ENSP00000390925.2:n.2186-7983C>T
ENST00000455470.6:c.2431+3978C>T	ENSP00000406565.2:n.2431+3978C>T
ENST00000382292.7:c.6409C>T	ENSP00000371729.3:p.Gln2137Ter
ENST00000382298.7:c.6409C>T	ENSP00000371735.3:p.Gln2137Ter
ENST00000402364.1:c.4159C>T	ENSP00000385844.1:p.Gln1387Ter
ENST00000423156.1:c.1058-7983C>T	ENSP00000390925.1:n.1058-7983C>T
ENST00000455470.5:c.2129+3978C>T
NM_001278055.1:c.5968C>T	NP_001264984.1:p.Gln1990Ter
NM_014363.5:c.6409C>T	NP_055178.3:p.Gln2137Ter
XM_005266338.1:c.6436C>T	XP_005266395.1:p.Gln2146Ter
XM_011535038.1:c.6460C>T	XP_011533340.1:p.Gln2154Ter
XM_011535039.1:c.6427C>T	XP_011533341.1:p.Gln2143Ter
XM_005266338.2:c.6436C>T	XP_005266395.1:p.Gln2146Ter
XM_011535039.2:c.6427C>T	XP_011533341.1:p.Gln2143Ter
XM_017020539.1:c.6400C>T	XP_016876028.1:p.Gln2134Ter
XM_024449337.1:c.6436C>T	XP_024305105.1:p.Gln2146Ter
NM_014363.6:c.6409C>T MANE Select	NP_055178.3:p.Gln2137Ter
NM_001278055.2:c.5968C>T	NP_001264984.1:p.Gln1990Ter