Canonical Allele Identifier: CA483162345

Gene: SACS

Linked Data

• dbSNP Id: rs1305544218
• gnomAD v3: 13-23338620-A-G
• gnomAD v4: 13-23338620-A-G
• MyVariant Identifiers: chr13:g.23912759A>G (hg19) ; chr13:g.23338620A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23338620A>G , CM000675.2:g.23338620A>G	GRCh38
NC_000013.10:g.23912759A>G , CM000675.1:g.23912759A>G	GRCh37
NC_000013.9:g.22810759A>G	NCBI36
NG_012342.1:g.100083T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15165T>C	ENSP00000508399.1:n.2185+15165T>C
ENST00000682944.1:c.5283T>C	ENSP00000507173.1:p.Asp1761=
ENST00000683210.1:c.2185+15165T>C	ENSP00000506739.1:n.2185+15165T>C
ENST00000683270.1:c.5247T>C	ENSP00000507624.1:p.Asp1749=
ENST00000683367.1:c.2177-9136T>C	ENSP00000507780.1:n.2177-9136T>C
ENST00000683489.1:c.2291+2965T>C	ENSP00000508403.1:n.2291+2965T>C
ENST00000683680.1:c.2318+2965T>C	ENSP00000507223.1:n.2318+2965T>C
ENST00000684163.1:c.2203+8191T>C	ENSP00000508262.1:n.2203+8191T>C
ENST00000684196.1:n.4543-9136T>C
ENST00000684325.1:c.2185+15165T>C	ENSP00000508121.1:n.2185+15165T>C
ENST00000684385.1:c.2220+8191T>C	ENSP00000507855.1:n.2220+8191T>C
ENST00000684497.1:c.2185+15165T>C	ENSP00000507057.1:n.2185+15165T>C
ENST00000382292.9:c.5256T>C MANE Select	ENSP00000371729.3:p.Asp1752=
ENST00000423156.2:c.2186-9136T>C	ENSP00000390925.2:n.2186-9136T>C
ENST00000455470.6:c.2431+2825T>C	ENSP00000406565.2:n.2431+2825T>C
ENST00000382292.7:c.5256T>C	ENSP00000371729.3:p.Asp1752=
ENST00000382298.7:c.5256T>C	ENSP00000371735.3:p.Asp1752=
ENST00000402364.1:c.3006T>C	ENSP00000385844.1:p.Asp1002=
ENST00000423156.1:c.1058-9136T>C	ENSP00000390925.1:n.1058-9136T>C
ENST00000455470.5:c.2129+2825T>C
NM_001278055.1:c.4815T>C	NP_001264984.1:p.Asp1605=
NM_014363.5:c.5256T>C	NP_055178.3:p.Asp1752=
XM_005266338.1:c.5283T>C	XP_005266395.1:p.Asp1761=
XM_011535038.1:c.5307T>C	XP_011533340.1:p.Asp1769=
XM_011535039.1:c.5274T>C	XP_011533341.1:p.Asp1758=
XM_005266338.2:c.5283T>C	XP_005266395.1:p.Asp1761=
XM_011535039.2:c.5274T>C	XP_011533341.1:p.Asp1758=
XM_017020539.1:c.5247T>C	XP_016876028.1:p.Asp1749=
XM_024449337.1:c.5283T>C	XP_024305105.1:p.Asp1761=
NM_014363.6:c.5256T>C MANE Select	NP_055178.3:p.Asp1752=
NM_001278055.2:c.4815T>C	NP_001264984.1:p.Asp1605=