Canonical Allele Identifier: CA387540555

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23915788A>C (hg19) ; chr13:g.23341649A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23341649A>C , CM000675.2:g.23341649A>C	GRCh38
NC_000013.10:g.23915788A>C , CM000675.1:g.23915788A>C	GRCh37
NC_000013.9:g.22813788A>C	NCBI36
NG_012342.1:g.97054T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+12136T>G	ENSP00000508399.1:n.2185+12136T>G
ENST00000682944.1:c.2254T>G	ENSP00000507173.1:p.Phe752Val
ENST00000683210.1:c.2185+12136T>G	ENSP00000506739.1:n.2185+12136T>G
ENST00000683270.1:c.2218T>G	ENSP00000507624.1:p.Phe740Val
ENST00000683367.1:c.2176+12136T>G	ENSP00000507780.1:n.2176+12136T>G
ENST00000683489.1:c.2227T>G	ENSP00000508403.1:p.Phe743Val
ENST00000683680.1:c.2254T>G	ENSP00000507223.1:p.Phe752Val
ENST00000684163.1:c.2203+5162T>G	ENSP00000508262.1:n.2203+5162T>G
ENST00000684196.1:n.4542+12136T>G
ENST00000684325.1:c.2185+12136T>G	ENSP00000508121.1:n.2185+12136T>G
ENST00000684385.1:c.2220+5162T>G	ENSP00000507855.1:n.2220+5162T>G
ENST00000684497.1:c.2185+12136T>G	ENSP00000507057.1:n.2185+12136T>G
ENST00000382292.9:c.2227T>G MANE Select	ENSP00000371729.3:p.Phe743Val
ENST00000423156.2:c.2185+12136T>G	ENSP00000390925.2:n.2185+12136T>G
ENST00000455470.6:c.2227T>G	ENSP00000406565.2:p.Phe743Val
ENST00000382292.7:c.2227T>G	ENSP00000371729.3:p.Phe743Val
ENST00000382298.7:c.2227T>G	ENSP00000371735.3:p.Phe743Val
ENST00000402364.1:c.-24T>G	ENSP00000385844.1:n.-24T>G
ENST00000423156.1:c.1057+12136T>G	ENSP00000390925.1:n.1057+12136T>G
ENST00000455470.5:c.1925T>G
NM_001278055.1:c.1786T>G	NP_001264984.1:p.Phe596Val
NM_014363.5:c.2227T>G	NP_055178.3:p.Phe743Val
XM_005266338.1:c.2254T>G	XP_005266395.1:p.Phe752Val
XM_011535038.1:c.2278T>G	XP_011533340.1:p.Phe760Val
XM_011535039.1:c.2245T>G	XP_011533341.1:p.Phe749Val
XM_005266338.2:c.2254T>G	XP_005266395.1:p.Phe752Val
XM_011535039.2:c.2245T>G	XP_011533341.1:p.Phe749Val
XM_017020539.1:c.2218T>G	XP_016876028.1:p.Phe740Val
XM_024449337.1:c.2254T>G	XP_024305105.1:p.Phe752Val
NM_014363.6:c.2227T>G MANE Select	NP_055178.3:p.Phe743Val
NM_001278055.2:c.1786T>G	NP_001264984.1:p.Phe596Val