Canonical Allele Identifier: CA246680340

Gene: SACS

Linked Data

• ClinVar Variation Id: 696843
• ClinVar RCV Id: RCV001432213
• dbSNP Id: rs999767217
• gnomAD v2: 13-23932538-T-C
• gnomAD v4: 13-23358399-T-C
• MyVariant Identifiers: chr13:g.23932538T>C (hg19) ; chr13:g.23358399T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23358399T>C , CM000675.2:g.23358399T>C	GRCh38
NC_000013.10:g.23932538T>C , CM000675.1:g.23932538T>C	GRCh37
NC_000013.9:g.22830538T>C	NCBI36
NG_012342.1:g.80304A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.540A>G	ENSP00000508399.1:p.Lys180=
ENST00000682944.1:c.540A>G	ENSP00000507173.1:p.Lys180=
ENST00000683154.1:n.678A>G
ENST00000683210.1:c.540A>G	ENSP00000506739.1:p.Lys180=
ENST00000683270.1:c.531A>G	ENSP00000507624.1:p.Lys177=
ENST00000683367.1:c.531A>G	ENSP00000507780.1:p.Lys177=
ENST00000683489.1:c.540A>G	ENSP00000508403.1:p.Lys180=
ENST00000683680.1:c.540A>G	ENSP00000507223.1:p.Lys180=
ENST00000684163.1:c.531A>G	ENSP00000508262.1:p.Lys177=
ENST00000684196.1:n.2897A>G
ENST00000684325.1:c.540A>G	ENSP00000508121.1:p.Lys180=
ENST00000684385.1:c.540A>G	ENSP00000507855.1:p.Lys180=
ENST00000684497.1:c.540A>G	ENSP00000507057.1:p.Lys180=
ENST00000382292.9:c.540A>G MANE Select	ENSP00000371729.3:p.Lys180=
ENST00000423156.2:c.540A>G	ENSP00000390925.2:p.Lys180=
ENST00000455470.6:c.540A>G	ENSP00000406565.2:p.Lys180=
ENST00000382292.7:c.540A>G	ENSP00000371729.3:p.Lys180=
ENST00000382298.7:c.540A>G	ENSP00000371735.3:p.Lys180=
ENST00000402364.1:c.-1711A>G	ENSP00000385844.1:n.-1711A>G
ENST00000455470.5:c.238A>G
NM_001278055.1:c.99A>G	NP_001264984.1:p.Lys33=
NM_014363.5:c.540A>G	NP_055178.3:p.Lys180=
XM_005266338.1:c.540A>G	XP_005266395.1:p.Lys180=
XM_011535038.1:c.564A>G	XP_011533340.1:p.Lys188=
XM_011535039.1:c.531A>G	XP_011533341.1:p.Lys177=
XM_005266338.2:c.540A>G	XP_005266395.1:p.Lys180=
XM_011535039.2:c.531A>G	XP_011533341.1:p.Lys177=
XM_017020539.1:c.531A>G	XP_016876028.1:p.Lys177=
XM_024449337.1:c.540A>G	XP_024305105.1:p.Lys180=
NM_014363.6:c.540A>G MANE Select	NP_055178.3:p.Lys180=
NM_001278055.2:c.99A>G	NP_001264984.1:p.Lys33=