Canonical Allele Identifier: CA387550005

Gene: SACS

Linked Data

• ClinVar Variation Id: 2678509
• ClinVar RCV Id: RCV003466319
• gnomAD v4: 13-23355450-G-A
• MyVariant Identifiers: chr13:g.23929589G>A (hg19) ; chr13:g.23355450G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23355450G>A , CM000675.2:g.23355450G>A	GRCh38
NC_000013.10:g.23929589G>A , CM000675.1:g.23929589G>A	GRCh37
NC_000013.9:g.22827589G>A	NCBI36
NG_012342.1:g.83253C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.1162C>T	ENSP00000508399.1:p.Gln388Ter
ENST00000682944.1:c.1162C>T	ENSP00000507173.1:p.Gln388Ter
ENST00000683154.1:n.1300C>T
ENST00000683210.1:c.1162C>T	ENSP00000506739.1:p.Gln388Ter
ENST00000683270.1:c.1153C>T	ENSP00000507624.1:p.Gln385Ter
ENST00000683367.1:c.1153C>T	ENSP00000507780.1:p.Gln385Ter
ENST00000683489.1:c.1162C>T	ENSP00000508403.1:p.Gln388Ter
ENST00000683680.1:c.1162C>T	ENSP00000507223.1:p.Gln388Ter
ENST00000684163.1:c.1153C>T	ENSP00000508262.1:p.Gln385Ter
ENST00000684196.1:n.3519C>T
ENST00000684325.1:c.1162C>T	ENSP00000508121.1:p.Gln388Ter
ENST00000684385.1:c.1162C>T	ENSP00000507855.1:p.Gln388Ter
ENST00000684497.1:c.1162C>T	ENSP00000507057.1:p.Gln388Ter
ENST00000382292.9:c.1162C>T MANE Select	ENSP00000371729.3:p.Gln388Ter
ENST00000423156.2:c.1162C>T	ENSP00000390925.2:p.Gln388Ter
ENST00000455470.6:c.1162C>T	ENSP00000406565.2:p.Gln388Ter
ENST00000382292.7:c.1162C>T	ENSP00000371729.3:p.Gln388Ter
ENST00000382298.7:c.1162C>T	ENSP00000371735.3:p.Gln388Ter
ENST00000402364.1:c.-1089C>T	ENSP00000385844.1:n.-1089C>T
ENST00000423156.1:c.34C>T	ENSP00000390925.1:p.Gln12Ter
ENST00000455470.5:c.860C>T
NM_001278055.1:c.721C>T	NP_001264984.1:p.Gln241Ter
NM_014363.5:c.1162C>T	NP_055178.3:p.Gln388Ter
XM_005266338.1:c.1162C>T	XP_005266395.1:p.Gln388Ter
XM_011535038.1:c.1186C>T	XP_011533340.1:p.Gln396Ter
XM_011535039.1:c.1153C>T	XP_011533341.1:p.Gln385Ter
XM_005266338.2:c.1162C>T	XP_005266395.1:p.Gln388Ter
XM_011535039.2:c.1153C>T	XP_011533341.1:p.Gln385Ter
XM_017020539.1:c.1153C>T	XP_016876028.1:p.Gln385Ter
XM_024449337.1:c.1162C>T	XP_024305105.1:p.Gln388Ter
NM_014363.6:c.1162C>T MANE Select	NP_055178.3:p.Gln388Ter
NM_001278055.2:c.721C>T	NP_001264984.1:p.Gln241Ter