Canonical Allele Identifier: CA387525164

Gene: SACS

Linked Data

• dbSNP Id: rs1339456377
• gnomAD v2: 13-23912362-G-T
• gnomAD v4: 13-23338223-G-T
• MyVariant Identifiers: chr13:g.23912362G>T (hg19) ; chr13:g.23338223G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23338223G>T , CM000675.2:g.23338223G>T	GRCh38
NC_000013.10:g.23912362G>T , CM000675.1:g.23912362G>T	GRCh37
NC_000013.9:g.22810362G>T	NCBI36
NG_012342.1:g.100480C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+15562C>A	ENSP00000508399.1:n.2185+15562C>A
ENST00000682944.1:c.5680C>A	ENSP00000507173.1:p.His1894Asn
ENST00000683210.1:c.2185+15562C>A	ENSP00000506739.1:n.2185+15562C>A
ENST00000683270.1:c.5644C>A	ENSP00000507624.1:p.His1882Asn
ENST00000683367.1:c.2177-8739C>A	ENSP00000507780.1:n.2177-8739C>A
ENST00000683489.1:c.2291+3362C>A	ENSP00000508403.1:n.2291+3362C>A
ENST00000683680.1:c.2318+3362C>A	ENSP00000507223.1:n.2318+3362C>A
ENST00000684163.1:c.2203+8588C>A	ENSP00000508262.1:n.2203+8588C>A
ENST00000684196.1:n.4543-8739C>A
ENST00000684325.1:c.2185+15562C>A	ENSP00000508121.1:n.2185+15562C>A
ENST00000684385.1:c.2220+8588C>A	ENSP00000507855.1:n.2220+8588C>A
ENST00000684497.1:c.2185+15562C>A	ENSP00000507057.1:n.2185+15562C>A
ENST00000382292.9:c.5653C>A MANE Select	ENSP00000371729.3:p.His1885Asn
ENST00000423156.2:c.2186-8739C>A	ENSP00000390925.2:n.2186-8739C>A
ENST00000455470.6:c.2431+3222C>A	ENSP00000406565.2:n.2431+3222C>A
ENST00000382292.7:c.5653C>A	ENSP00000371729.3:p.His1885Asn
ENST00000382298.7:c.5653C>A	ENSP00000371735.3:p.His1885Asn
ENST00000402364.1:c.3403C>A	ENSP00000385844.1:p.His1135Asn
ENST00000423156.1:c.1058-8739C>A	ENSP00000390925.1:n.1058-8739C>A
ENST00000455470.5:c.2129+3222C>A
NM_001278055.1:c.5212C>A	NP_001264984.1:p.His1738Asn
NM_014363.5:c.5653C>A	NP_055178.3:p.His1885Asn
XM_005266338.1:c.5680C>A	XP_005266395.1:p.His1894Asn
XM_011535038.1:c.5704C>A	XP_011533340.1:p.His1902Asn
XM_011535039.1:c.5671C>A	XP_011533341.1:p.His1891Asn
XM_005266338.2:c.5680C>A	XP_005266395.1:p.His1894Asn
XM_011535039.2:c.5671C>A	XP_011533341.1:p.His1891Asn
XM_017020539.1:c.5644C>A	XP_016876028.1:p.His1882Asn
XM_024449337.1:c.5680C>A	XP_024305105.1:p.His1894Asn
NM_014363.6:c.5653C>A MANE Select	NP_055178.3:p.His1885Asn
NM_001278055.2:c.5212C>A	NP_001264984.1:p.His1738Asn