Canonical Allele Identifier: CA387517608

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23910015A>T (hg19) ; chr13:g.23335876A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23335876A>T , CM000675.2:g.23335876A>T	GRCh38
NC_000013.10:g.23910015A>T , CM000675.1:g.23910015A>T	GRCh37
NC_000013.9:g.22808015A>T	NCBI36
NG_012342.1:g.102827T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+17909T>A	ENSP00000508399.1:n.2185+17909T>A
ENST00000682944.1:c.8027T>A	ENSP00000507173.1:p.Phe2676Tyr
ENST00000683210.1:c.2185+17909T>A	ENSP00000506739.1:n.2185+17909T>A
ENST00000683270.1:c.6445+1546T>A	ENSP00000507624.1:n.6445+1546T>A
ENST00000683367.1:c.2177-6392T>A	ENSP00000507780.1:n.2177-6392T>A
ENST00000683489.1:c.2291+5709T>A	ENSP00000508403.1:n.2291+5709T>A
ENST00000683680.1:c.2318+5709T>A	ENSP00000507223.1:n.2318+5709T>A
ENST00000684163.1:c.2204-6392T>A	ENSP00000508262.1:n.2204-6392T>A
ENST00000684196.1:n.4543-6392T>A
ENST00000684325.1:c.2186-14202T>A	ENSP00000508121.1:n.2186-14202T>A
ENST00000684385.1:c.2221-6392T>A	ENSP00000507855.1:n.2221-6392T>A
ENST00000684497.1:c.2186-13232T>A	ENSP00000507057.1:n.2186-13232T>A
ENST00000382292.9:c.8000T>A MANE Select	ENSP00000371729.3:p.Phe2667Tyr
ENST00000423156.2:c.2186-6392T>A	ENSP00000390925.2:n.2186-6392T>A
ENST00000455470.6:c.2431+5569T>A	ENSP00000406565.2:n.2431+5569T>A
ENST00000382292.7:c.8000T>A	ENSP00000371729.3:p.Phe2667Tyr
ENST00000382298.7:c.8000T>A	ENSP00000371735.3:p.Phe2667Tyr
ENST00000402364.1:c.5750T>A	ENSP00000385844.1:p.Phe1917Tyr
ENST00000423156.1:c.1058-6392T>A	ENSP00000390925.1:n.1058-6392T>A
ENST00000455470.5:c.2129+5569T>A
NM_001278055.1:c.7559T>A	NP_001264984.1:p.Phe2520Tyr
NM_014363.5:c.8000T>A	NP_055178.3:p.Phe2667Tyr
XM_005266338.1:c.8027T>A	XP_005266395.1:p.Phe2676Tyr
XM_011535038.1:c.8051T>A	XP_011533340.1:p.Phe2684Tyr
XM_011535039.1:c.8018T>A	XP_011533341.1:p.Phe2673Tyr
XM_005266338.2:c.8027T>A	XP_005266395.1:p.Phe2676Tyr
XM_011535039.2:c.8018T>A	XP_011533341.1:p.Phe2673Tyr
XM_017020539.1:c.7991T>A	XP_016876028.1:p.Phe2664Tyr
XM_024449337.1:c.8027T>A	XP_024305105.1:p.Phe2676Tyr
NM_014363.6:c.8000T>A MANE Select	NP_055178.3:p.Phe2667Tyr
NM_001278055.2:c.7559T>A	NP_001264984.1:p.Phe2520Tyr