Canonical Allele Identifier: CA387523800

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23911868G>T (hg19) ; chr13:g.23337729G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337729G>T , CM000675.2:g.23337729G>T	GRCh38
NC_000013.10:g.23911868G>T , CM000675.1:g.23911868G>T	GRCh37
NC_000013.9:g.22809868G>T	NCBI36
NG_012342.1:g.100974C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16056C>A	ENSP00000508399.1:n.2185+16056C>A
ENST00000682944.1:c.6174C>A	ENSP00000507173.1:p.Asn2058Lys
ENST00000683210.1:c.2185+16056C>A	ENSP00000506739.1:n.2185+16056C>A
ENST00000683270.1:c.6138C>A	ENSP00000507624.1:p.Asn2046Lys
ENST00000683367.1:c.2177-8245C>A	ENSP00000507780.1:n.2177-8245C>A
ENST00000683489.1:c.2291+3856C>A	ENSP00000508403.1:n.2291+3856C>A
ENST00000683680.1:c.2318+3856C>A	ENSP00000507223.1:n.2318+3856C>A
ENST00000684163.1:c.2204-8245C>A	ENSP00000508262.1:n.2204-8245C>A
ENST00000684196.1:n.4543-8245C>A
ENST00000684325.1:c.2186-16055C>A	ENSP00000508121.1:n.2186-16055C>A
ENST00000684385.1:c.2221-8245C>A	ENSP00000507855.1:n.2221-8245C>A
ENST00000684497.1:c.2186-15085C>A	ENSP00000507057.1:n.2186-15085C>A
ENST00000382292.9:c.6147C>A MANE Select	ENSP00000371729.3:p.Asn2049Lys
ENST00000423156.2:c.2186-8245C>A	ENSP00000390925.2:n.2186-8245C>A
ENST00000455470.6:c.2431+3716C>A	ENSP00000406565.2:n.2431+3716C>A
ENST00000382292.7:c.6147C>A	ENSP00000371729.3:p.Asn2049Lys
ENST00000382298.7:c.6147C>A	ENSP00000371735.3:p.Asn2049Lys
ENST00000402364.1:c.3897C>A	ENSP00000385844.1:p.Asn1299Lys
ENST00000423156.1:c.1058-8245C>A	ENSP00000390925.1:n.1058-8245C>A
ENST00000455470.5:c.2129+3716C>A
NM_001278055.1:c.5706C>A	NP_001264984.1:p.Asn1902Lys
NM_014363.5:c.6147C>A	NP_055178.3:p.Asn2049Lys
XM_005266338.1:c.6174C>A	XP_005266395.1:p.Asn2058Lys
XM_011535038.1:c.6198C>A	XP_011533340.1:p.Asn2066Lys
XM_011535039.1:c.6165C>A	XP_011533341.1:p.Asn2055Lys
XM_005266338.2:c.6174C>A	XP_005266395.1:p.Asn2058Lys
XM_011535039.2:c.6165C>A	XP_011533341.1:p.Asn2055Lys
XM_017020539.1:c.6138C>A	XP_016876028.1:p.Asn2046Lys
XM_024449337.1:c.6174C>A	XP_024305105.1:p.Asn2058Lys
NM_014363.6:c.6147C>A MANE Select	NP_055178.3:p.Asn2049Lys
NM_001278055.2:c.5706C>A	NP_001264984.1:p.Asn1902Lys