Canonical Allele Identifier: CA387503611

Gene: SACS SGCG

Linked Data

• MyVariant Identifiers: chr13:g.23898546G>T (hg19) ; chr13:g.23324407G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23324407G>T , CM000675.2:g.23324407G>T	GRCh38
NC_000013.10:g.23898546G>T , CM000675.1:g.23898546G>T	GRCh37
NC_000013.9:g.22796546G>T	NCBI36
NG_008759.1:g.148487G>T , LRG_207:g.148487G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-12292C>A (SACS)	ENSP00000508399.1:n.2186-12292C>A
ENST00000683210.1:c.2185+29378C>A (SACS)	ENSP00000506739.1:n.2185+29378C>A
ENST00000684325.1:c.2186-2733C>A (SACS)	ENSP00000508121.1:n.2186-2733C>A
ENST00000684497.1:c.2186-1763C>A (SACS)	ENSP00000507057.1:n.2186-1763C>A
ENST00000218867.4:c.742G>T (SGCG) MANE Select	ENSP00000218867.3:p.Val248Leu
ENST00000218867.3:c.742G>T (SGCG)	ENSP00000218867.3:p.Val248Leu
NM_000231.2:c.742G>T , LRG_207t1:c.742G>T (SGCG)	NP_000222.1:p.Val248Leu
XM_005266505.2:c.742G>T (SGCG)	XP_005266562.1:p.Val248Leu
XM_006719861.2:c.796G>T (SGCG)	XP_006719924.1:p.Val266Leu
XM_006719861.3:c.796G>T (SGCG)	XP_006719924.1:p.Val266Leu
XM_024449397.1:c.742G>T (SGCG)	XP_024305165.1:p.Val248Leu
NM_000231.3:c.742G>T (SGCG) MANE Select	NP_000222.2:p.Val248Leu
NM_001378244.1:c.796G>T (SGCG)	NP_001365173.1:p.Val266Leu
NM_001378245.1:c.742G>T (SGCG)	NP_001365174.1:p.Val248Leu
NM_001378246.1:c.742G>T (SGCG)	NP_001365175.1:p.Val248Leu