Canonical Allele Identifier: CA387502439

Gene: SACS SGCG

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23320639T>G , CM000675.2:g.23320639T>G	GRCh38
NC_000013.10:g.23894778T>G , CM000675.1:g.23894778T>G	GRCh37
NC_000013.9:g.22792778T>G	NCBI36
NG_008759.1:g.144719T>G , LRG_207:g.144719T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000231.3:c.581T>G (SGCG) MANE Select	NP_000222.2:p.Leu194Ter
ENST00000218867.4:c.581T>G (SGCG) MANE Select	ENSP00000218867.3:p.Leu194Ter
NM_000231.2:c.581T>G , LRG_207t1:c.581T>G (SGCG)	NP_000222.1:p.Leu194Ter
NM_001378244.1:c.635T>G (SGCG)	NP_001365173.1:p.Leu212Ter
NM_001378245.1:c.581T>G (SGCG)	NP_001365174.1:p.Leu194Ter
NM_001378246.1:c.581T>G (SGCG)	NP_001365175.1:p.Leu194Ter
ENST00000218867.3:c.581T>G (SGCG)	ENSP00000218867.3:p.Leu194Ter
ENST00000682775.1:c.2186-8524A>C (SACS)	ENSP00000508399.1:n.2186-8524A>C
ENST00000683210.1:c.2186-31396A>C (SACS)	ENSP00000506739.1:n.2186-31396A>C
ENST00000684325.1:c.*104+927A>C (SACS)	ENSP00000508121.1:n.*104+927A>C
XM_005266505.2:c.581T>G (SGCG)	XP_005266562.1:p.Leu194Ter
XM_006719861.2:c.635T>G (SGCG)	XP_006719924.1:p.Leu212Ter
XM_006719861.3:c.635T>G (SGCG)	XP_006719924.1:p.Leu212Ter
XM_024449397.1:c.581T>G (SGCG)	XP_024305165.1:p.Leu194Ter
XR_001749787.1:n.1181+927A>C