Canonical Allele Identifier: CA387554553

Gene: SACS

Linked Data

• ClinVar Variation Id: 2176572
• ClinVar RCV Id: RCV002602655
• dbSNP Id: rs1272196981
• gnomAD v2: 13-23949322-T-C
• gnomAD v4: 13-23375183-T-C
• MyVariant Identifiers: chr13:g.23949322T>C (hg19) ; chr13:g.23375183T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23375183T>C , CM000675.2:g.23375183T>C	GRCh38
NC_000013.10:g.23949322T>C , CM000675.1:g.23949322T>C	GRCh37
NC_000013.9:g.22847322T>C	NCBI36
NG_012342.1:g.63520A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682244.1:n.680A>G
ENST00000682547.1:c.144A>G	ENSP00000507735.1:p.Gly48=
ENST00000682775.1:c.107A>G	ENSP00000508399.1:p.Glu36Gly
ENST00000682944.1:c.107A>G	ENSP00000507173.1:p.Glu36Gly
ENST00000683154.1:n.245A>G
ENST00000683210.1:c.107A>G	ENSP00000506739.1:p.Glu36Gly
ENST00000683270.1:c.98A>G	ENSP00000507624.1:p.Glu33Gly
ENST00000683367.1:c.98A>G	ENSP00000507780.1:p.Glu33Gly
ENST00000683489.1:c.107A>G	ENSP00000508403.1:p.Glu36Gly
ENST00000683680.1:c.107A>G	ENSP00000507223.1:p.Glu36Gly
ENST00000684053.1:n.224A>G
ENST00000684163.1:c.98A>G	ENSP00000508262.1:p.Glu33Gly
ENST00000684325.1:c.107A>G	ENSP00000508121.1:p.Glu36Gly
ENST00000684385.1:c.107A>G	ENSP00000507855.1:p.Glu36Gly
ENST00000684497.1:c.107A>G	ENSP00000507057.1:p.Glu36Gly
ENST00000382292.9:c.107A>G MANE Select	ENSP00000371729.3:p.Glu36Gly
ENST00000423156.2:c.107A>G	ENSP00000390925.2:p.Glu36Gly
ENST00000455470.6:c.107A>G	ENSP00000406565.2:p.Glu36Gly
ENST00000382292.7:c.107A>G	ENSP00000371729.3:p.Glu36Gly
ENST00000382298.7:c.107A>G	ENSP00000371735.3:p.Glu36Gly
ENST00000402364.1:c.-2056A>G	ENSP00000385844.1:n.-2056A>G
NM_001278055.1:c.-247A>G	NP_001264984.1:n.-247A>G
NM_014363.5:c.107A>G	NP_055178.3:p.Glu36Gly
XM_005266338.1:c.107A>G	XP_005266395.1:p.Glu36Gly
XM_011535038.1:c.131A>G	XP_011533340.1:p.Glu44Gly
XM_011535039.1:c.98A>G	XP_011533341.1:p.Glu33Gly
XM_005266338.2:c.107A>G	XP_005266395.1:p.Glu36Gly
XM_011535039.2:c.98A>G	XP_011533341.1:p.Glu33Gly
XM_017020539.1:c.98A>G	XP_016876028.1:p.Glu33Gly
XM_024449337.1:c.107A>G	XP_024305105.1:p.Glu36Gly
NM_014363.6:c.107A>G MANE Select	NP_055178.3:p.Glu36Gly
NM_001278055.2:c.-247A>G	NP_001264984.1:n.-247A>G