Canonical Allele Identifier: CA387547267

Gene: SACS

Linked Data

• ClinVar Variation Id: 2167360
• ClinVar RCV Id: RCV003092102
• dbSNP Id: rs1300107942
• gnomAD v2: 13-23929076-T-C
• gnomAD v3: 13-23354937-T-C
• gnomAD v4: 13-23354937-T-C
• MyVariant Identifiers: chr13:g.23929076T>C (hg19) ; chr13:g.23354937T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23354937T>C , CM000675.2:g.23354937T>C	GRCh38
NC_000013.10:g.23929076T>C , CM000675.1:g.23929076T>C	GRCh37
NC_000013.9:g.22827076T>C	NCBI36
NG_012342.1:g.83766A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.1675A>G	ENSP00000508399.1:p.Asn559Asp
ENST00000682944.1:c.1675A>G	ENSP00000507173.1:p.Asn559Asp
ENST00000683154.1:n.1813A>G
ENST00000683210.1:c.1675A>G	ENSP00000506739.1:p.Asn559Asp
ENST00000683270.1:c.1666A>G	ENSP00000507624.1:p.Asn556Asp
ENST00000683367.1:c.1666A>G	ENSP00000507780.1:p.Asn556Asp
ENST00000683489.1:c.1675A>G	ENSP00000508403.1:p.Asn559Asp
ENST00000683680.1:c.1675A>G	ENSP00000507223.1:p.Asn559Asp
ENST00000684163.1:c.1666A>G	ENSP00000508262.1:p.Asn556Asp
ENST00000684196.1:n.4032A>G
ENST00000684325.1:c.1675A>G	ENSP00000508121.1:p.Asn559Asp
ENST00000684385.1:c.1675A>G	ENSP00000507855.1:p.Asn559Asp
ENST00000684497.1:c.1675A>G	ENSP00000507057.1:p.Asn559Asp
ENST00000382292.9:c.1675A>G MANE Select	ENSP00000371729.3:p.Asn559Asp
ENST00000423156.2:c.1675A>G	ENSP00000390925.2:p.Asn559Asp
ENST00000455470.6:c.1675A>G	ENSP00000406565.2:p.Asn559Asp
ENST00000382292.7:c.1675A>G	ENSP00000371729.3:p.Asn559Asp
ENST00000382298.7:c.1675A>G	ENSP00000371735.3:p.Asn559Asp
ENST00000402364.1:c.-576A>G	ENSP00000385844.1:n.-576A>G
ENST00000423156.1:c.547A>G	ENSP00000390925.1:p.Asn183Asp
ENST00000455470.5:c.1373A>G
NM_001278055.1:c.1234A>G	NP_001264984.1:p.Asn412Asp
NM_014363.5:c.1675A>G	NP_055178.3:p.Asn559Asp
XM_005266338.1:c.1675A>G	XP_005266395.1:p.Asn559Asp
XM_011535038.1:c.1699A>G	XP_011533340.1:p.Asn567Asp
XM_011535039.1:c.1666A>G	XP_011533341.1:p.Asn556Asp
XM_005266338.2:c.1675A>G	XP_005266395.1:p.Asn559Asp
XM_011535039.2:c.1666A>G	XP_011533341.1:p.Asn556Asp
XM_017020539.1:c.1666A>G	XP_016876028.1:p.Asn556Asp
XM_024449337.1:c.1675A>G	XP_024305105.1:p.Asn559Asp
NM_014363.6:c.1675A>G MANE Select	NP_055178.3:p.Asn559Asp
NM_001278055.2:c.1234A>G	NP_001264984.1:p.Asn412Asp