Canonical Allele Identifier: CA482928888

Gene: SACS

Linked Data

• ClinVar Variation Id: 1096378
• ClinVar RCV Id: RCV001417616
• dbSNP Id: rs1871673007
• gnomAD v4: 13-23375185-C-T
• MyVariant Identifiers: chr13:g.23949324C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23375185C>T , CM000675.2:g.23375185C>T	GRCh38
NC_000013.10:g.23949324C>T , CM000675.1:g.23949324C>T	GRCh37
NC_000013.9:g.22847324C>T	NCBI36
NG_012342.1:g.63518G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682244.1:n.678G>A
ENST00000682547.1:c.142G>A	ENSP00000507735.1:p.Gly48Arg
ENST00000682775.1:c.105G>A	ENSP00000508399.1:p.Lys35=
ENST00000682944.1:c.105G>A	ENSP00000507173.1:p.Lys35=
ENST00000683154.1:n.243G>A
ENST00000683210.1:c.105G>A	ENSP00000506739.1:p.Lys35=
ENST00000683270.1:c.96G>A	ENSP00000507624.1:p.Lys32=
ENST00000683367.1:c.96G>A	ENSP00000507780.1:p.Lys32=
ENST00000683489.1:c.105G>A	ENSP00000508403.1:p.Lys35=
ENST00000683680.1:c.105G>A	ENSP00000507223.1:p.Lys35=
ENST00000684053.1:n.222G>A
ENST00000684163.1:c.96G>A	ENSP00000508262.1:p.Lys32=
ENST00000684325.1:c.105G>A	ENSP00000508121.1:p.Lys35=
ENST00000684385.1:c.105G>A	ENSP00000507855.1:p.Lys35=
ENST00000684497.1:c.105G>A	ENSP00000507057.1:p.Lys35=
ENST00000382292.9:c.105G>A MANE Select	ENSP00000371729.3:p.Lys35=
ENST00000423156.2:c.105G>A	ENSP00000390925.2:p.Lys35=
ENST00000455470.6:c.105G>A	ENSP00000406565.2:p.Lys35=
ENST00000382292.7:c.105G>A	ENSP00000371729.3:p.Lys35=
ENST00000382298.7:c.105G>A	ENSP00000371735.3:p.Lys35=
ENST00000402364.1:c.-2058G>A	ENSP00000385844.1:n.-2058G>A
NM_001278055.1:c.-249G>A	NP_001264984.1:n.-249G>A
NM_014363.5:c.105G>A	NP_055178.3:p.Lys35=
XM_005266338.1:c.105G>A	XP_005266395.1:p.Lys35=
XM_011535038.1:c.129G>A	XP_011533340.1:p.Lys43=
XM_011535039.1:c.96G>A	XP_011533341.1:p.Lys32=
XM_005266338.2:c.105G>A	XP_005266395.1:p.Lys35=
XM_011535039.2:c.96G>A	XP_011533341.1:p.Lys32=
XM_017020539.1:c.96G>A	XP_016876028.1:p.Lys32=
XM_024449337.1:c.105G>A	XP_024305105.1:p.Lys35=
NM_014363.6:c.105G>A MANE Select	NP_055178.3:p.Lys35=
NM_001278055.2:c.-249G>A	NP_001264984.1:n.-249G>A