Canonical Allele Identifier: CA387523750

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23911846A>G (hg19) ; chr13:g.23337707A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337707A>G , CM000675.2:g.23337707A>G	GRCh38
NC_000013.10:g.23911846A>G , CM000675.1:g.23911846A>G	GRCh37
NC_000013.9:g.22809846A>G	NCBI36
NG_012342.1:g.100996T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16078T>C	ENSP00000508399.1:n.2185+16078T>C
ENST00000682944.1:c.6196T>C	ENSP00000507173.1:p.Phe2066Leu
ENST00000683210.1:c.2185+16078T>C	ENSP00000506739.1:n.2185+16078T>C
ENST00000683270.1:c.6160T>C	ENSP00000507624.1:p.Phe2054Leu
ENST00000683367.1:c.2177-8223T>C	ENSP00000507780.1:n.2177-8223T>C
ENST00000683489.1:c.2291+3878T>C	ENSP00000508403.1:n.2291+3878T>C
ENST00000683680.1:c.2318+3878T>C	ENSP00000507223.1:n.2318+3878T>C
ENST00000684163.1:c.2204-8223T>C	ENSP00000508262.1:n.2204-8223T>C
ENST00000684196.1:n.4543-8223T>C
ENST00000684325.1:c.2186-16033T>C	ENSP00000508121.1:n.2186-16033T>C
ENST00000684385.1:c.2221-8223T>C	ENSP00000507855.1:n.2221-8223T>C
ENST00000684497.1:c.2186-15063T>C	ENSP00000507057.1:n.2186-15063T>C
ENST00000382292.9:c.6169T>C MANE Select	ENSP00000371729.3:p.Phe2057Leu
ENST00000423156.2:c.2186-8223T>C	ENSP00000390925.2:n.2186-8223T>C
ENST00000455470.6:c.2431+3738T>C	ENSP00000406565.2:n.2431+3738T>C
ENST00000382292.7:c.6169T>C	ENSP00000371729.3:p.Phe2057Leu
ENST00000382298.7:c.6169T>C	ENSP00000371735.3:p.Phe2057Leu
ENST00000402364.1:c.3919T>C	ENSP00000385844.1:p.Phe1307Leu
ENST00000423156.1:c.1058-8223T>C	ENSP00000390925.1:n.1058-8223T>C
ENST00000455470.5:c.2129+3738T>C
NM_001278055.1:c.5728T>C	NP_001264984.1:p.Phe1910Leu
NM_014363.5:c.6169T>C	NP_055178.3:p.Phe2057Leu
XM_005266338.1:c.6196T>C	XP_005266395.1:p.Phe2066Leu
XM_011535038.1:c.6220T>C	XP_011533340.1:p.Phe2074Leu
XM_011535039.1:c.6187T>C	XP_011533341.1:p.Phe2063Leu
XM_005266338.2:c.6196T>C	XP_005266395.1:p.Phe2066Leu
XM_011535039.2:c.6187T>C	XP_011533341.1:p.Phe2063Leu
XM_017020539.1:c.6160T>C	XP_016876028.1:p.Phe2054Leu
XM_024449337.1:c.6196T>C	XP_024305105.1:p.Phe2066Leu
NM_014363.6:c.6169T>C MANE Select	NP_055178.3:p.Phe2057Leu
NM_001278055.2:c.5728T>C	NP_001264984.1:p.Phe1910Leu