Canonical Allele Identifier: CA387504409

Gene: SACS SGCG

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23295488G>T , CM000675.2:g.23295488G>T	GRCh38
NC_000013.10:g.23869627G>T , CM000675.1:g.23869627G>T	GRCh37
NC_000013.9:g.22767627G>T	NCBI36
NG_008759.1:g.119568G>T , LRG_207:g.119568G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000231.3:c.578+1G>T (SGCG) MANE Select	NP_000222.2:n.578+1G>T
ENST00000218867.4:c.578+1G>T (SGCG) MANE Select	ENSP00000218867.3:n.578+1G>T
NM_000231.2:c.578+1G>T , LRG_207t1:c.578+1G>T (SGCG)	NP_000222.1:n.578+1G>T
NM_001378244.1:c.632+1G>T (SGCG)	NP_001365173.1:n.632+1G>T
NM_001378245.1:c.578+1G>T (SGCG)	NP_001365174.1:n.578+1G>T
NM_001378246.1:c.578+1G>T (SGCG)	NP_001365175.1:n.578+1G>T
ENST00000218867.3:c.578+1G>T (SGCG)	ENSP00000218867.3:n.578+1G>T
ENST00000683210.1:c.2186-6245C>A (SACS)	ENSP00000506739.1:n.2186-6245C>A
XM_005266505.2:c.578+1G>T (SGCG)	XP_005266562.1:n.578+1G>T
XM_006719861.2:c.632+1G>T (SGCG)	XP_006719924.1:n.632+1G>T
XM_006719861.3:c.632+1G>T (SGCG)	XP_006719924.1:n.632+1G>T
XM_024449397.1:c.578+1G>T (SGCG)	XP_024305165.1:n.578+1G>T