Canonical Allele Identifier: CA180430

Gene: SACS SGCG

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23324525A>G , CM000675.2:g.23324525A>G	GRCh38
NC_000013.10:g.23898664A>G , CM000675.1:g.23898664A>G	GRCh37
NC_000013.9:g.22796664A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-12410T>C (SACS)	ENSP00000508399.1:n.2186-12410T>C
ENST00000683210.1:c.2185+29260T>C (SACS)	ENSP00000506739.1:n.2185+29260T>C
ENST00000684325.1:c.2186-2851T>C (SACS)	ENSP00000508121.1:n.2186-2851T>C
ENST00000684497.1:c.2186-1881T>C (SACS)	ENSP00000507057.1:n.2186-1881T>C
ENST00000218867.4:c.860A>G (SGCG) MANE Select	ENSP00000218867.3:p.Asn287Ser
ENST00000218867.3:c.860A>G (SGCG)	ENSP00000218867.3:p.Asn287Ser
XM_005266505.2:c.860A>G (SGCG)	XP_005266562.1:p.Asn287Ser
XM_006719861.2:c.914A>G (SGCG)	XP_006719924.1:p.Asn305Ser
XM_006719861.3:c.914A>G (SGCG)	XP_006719924.1:p.Asn305Ser
XM_024449397.1:c.860A>G (SGCG)	XP_024305165.1:p.Asn287Ser
NM_000231.3:c.860A>G (SGCG) MANE Select	NP_000222.2:p.Asn287Ser
NM_001378244.1:c.914A>G (SGCG)	NP_001365173.1:p.Asn305Ser
NM_001378245.1:c.860A>G (SGCG)	NP_001365174.1:p.Asn287Ser
NM_001378246.1:c.860A>G (SGCG)	NP_001365175.1:p.Asn287Ser