Canonical Allele Identifier: CA387503504

Gene: SACS SGCG

Linked Data

• gnomAD v4: 13-23324377-G-C
• MyVariant Identifiers: chr13:g.23898516G>C (hg19) ; chr13:g.23324377G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23324377G>C , CM000675.2:g.23324377G>C	GRCh38
NC_000013.10:g.23898516G>C , CM000675.1:g.23898516G>C	GRCh37
NC_000013.9:g.22796516G>C	NCBI36
NG_008759.1:g.148457G>C , LRG_207:g.148457G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-12262C>G (SACS)	ENSP00000508399.1:n.2186-12262C>G
ENST00000683210.1:c.2185+29408C>G (SACS)	ENSP00000506739.1:n.2185+29408C>G
ENST00000684325.1:c.2186-2703C>G (SACS)	ENSP00000508121.1:n.2186-2703C>G
ENST00000684497.1:c.2186-1733C>G (SACS)	ENSP00000507057.1:n.2186-1733C>G
ENST00000218867.4:c.712G>C (SGCG) MANE Select	ENSP00000218867.3:p.Asp238His
ENST00000218867.3:c.712G>C (SGCG)	ENSP00000218867.3:p.Asp238His
NM_000231.2:c.712G>C , LRG_207t1:c.712G>C (SGCG)	NP_000222.1:p.Asp238His
XM_005266505.2:c.712G>C (SGCG)	XP_005266562.1:p.Asp238His
XM_006719861.2:c.766G>C (SGCG)	XP_006719924.1:p.Asp256His
XM_006719861.3:c.766G>C (SGCG)	XP_006719924.1:p.Asp256His
XM_024449397.1:c.712G>C (SGCG)	XP_024305165.1:p.Asp238His
NM_000231.3:c.712G>C (SGCG) MANE Select	NP_000222.2:p.Asp238His
NM_001378244.1:c.766G>C (SGCG)	NP_001365173.1:p.Asp256His
NM_001378245.1:c.712G>C (SGCG)	NP_001365174.1:p.Asp238His
NM_001378246.1:c.712G>C (SGCG)	NP_001365175.1:p.Asp238His