Canonical Allele Identifier: CA246680330

Gene: SACS

Linked Data

• dbSNP Id: rs1034591393
• gnomAD v3: 13-23358383-T-C
• gnomAD v4: 13-23358383-T-C
• MyVariant Identifiers: chr13:g.23932522T>C (hg19) ; chr13:g.23358383T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23358383T>C , CM000675.2:g.23358383T>C	GRCh38
NC_000013.10:g.23932522T>C , CM000675.1:g.23932522T>C	GRCh37
NC_000013.9:g.22830522T>C	NCBI36
NG_012342.1:g.80320A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.556A>G	ENSP00000508399.1:p.Lys186Glu
ENST00000682944.1:c.556A>G	ENSP00000507173.1:p.Lys186Glu
ENST00000683154.1:n.694A>G
ENST00000683210.1:c.556A>G	ENSP00000506739.1:p.Lys186Glu
ENST00000683270.1:c.547A>G	ENSP00000507624.1:p.Lys183Glu
ENST00000683367.1:c.547A>G	ENSP00000507780.1:p.Lys183Glu
ENST00000683489.1:c.556A>G	ENSP00000508403.1:p.Lys186Glu
ENST00000683680.1:c.556A>G	ENSP00000507223.1:p.Lys186Glu
ENST00000684163.1:c.547A>G	ENSP00000508262.1:p.Lys183Glu
ENST00000684196.1:n.2913A>G
ENST00000684325.1:c.556A>G	ENSP00000508121.1:p.Lys186Glu
ENST00000684385.1:c.556A>G	ENSP00000507855.1:p.Lys186Glu
ENST00000684497.1:c.556A>G	ENSP00000507057.1:p.Lys186Glu
ENST00000382292.9:c.556A>G MANE Select	ENSP00000371729.3:p.Lys186Glu
ENST00000423156.2:c.556A>G	ENSP00000390925.2:p.Lys186Glu
ENST00000455470.6:c.556A>G	ENSP00000406565.2:p.Lys186Glu
ENST00000382292.7:c.556A>G	ENSP00000371729.3:p.Lys186Glu
ENST00000382298.7:c.556A>G	ENSP00000371735.3:p.Lys186Glu
ENST00000402364.1:c.-1695A>G	ENSP00000385844.1:n.-1695A>G
ENST00000455470.5:c.254A>G
NM_001278055.1:c.115A>G	NP_001264984.1:p.Lys39Glu
NM_014363.5:c.556A>G	NP_055178.3:p.Lys186Glu
XM_005266338.1:c.556A>G	XP_005266395.1:p.Lys186Glu
XM_011535038.1:c.580A>G	XP_011533340.1:p.Lys194Glu
XM_011535039.1:c.547A>G	XP_011533341.1:p.Lys183Glu
XM_005266338.2:c.556A>G	XP_005266395.1:p.Lys186Glu
XM_011535039.2:c.547A>G	XP_011533341.1:p.Lys183Glu
XM_017020539.1:c.547A>G	XP_016876028.1:p.Lys183Glu
XM_024449337.1:c.556A>G	XP_024305105.1:p.Lys186Glu
NM_014363.6:c.556A>G MANE Select	NP_055178.3:p.Lys186Glu
NM_001278055.2:c.115A>G	NP_001264984.1:p.Lys39Glu