Canonical Allele Identifier: CA387520224

Gene: SACS

Linked Data

• dbSNP Id: rs1868655930
• MyVariant Identifiers: chr13:g.23910993A>G (hg19) ; chr13:g.23336854A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336854A>G , CM000675.2:g.23336854A>G	GRCh38
NC_000013.10:g.23910993A>G , CM000675.1:g.23910993A>G	GRCh37
NC_000013.9:g.22808993A>G	NCBI36
NG_012342.1:g.101849T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16931T>C	ENSP00000508399.1:n.2185+16931T>C
ENST00000682944.1:c.7049T>C	ENSP00000507173.1:p.Leu2350Ser
ENST00000683210.1:c.2185+16931T>C	ENSP00000506739.1:n.2185+16931T>C
ENST00000683270.1:c.6445+568T>C	ENSP00000507624.1:n.6445+568T>C
ENST00000683367.1:c.2177-7370T>C	ENSP00000507780.1:n.2177-7370T>C
ENST00000683489.1:c.2291+4731T>C	ENSP00000508403.1:n.2291+4731T>C
ENST00000683680.1:c.2318+4731T>C	ENSP00000507223.1:n.2318+4731T>C
ENST00000684163.1:c.2204-7370T>C	ENSP00000508262.1:n.2204-7370T>C
ENST00000684196.1:n.4543-7370T>C
ENST00000684325.1:c.2186-15180T>C	ENSP00000508121.1:n.2186-15180T>C
ENST00000684385.1:c.2221-7370T>C	ENSP00000507855.1:n.2221-7370T>C
ENST00000684497.1:c.2186-14210T>C	ENSP00000507057.1:n.2186-14210T>C
ENST00000382292.9:c.7022T>C MANE Select	ENSP00000371729.3:p.Leu2341Ser
ENST00000423156.2:c.2186-7370T>C	ENSP00000390925.2:n.2186-7370T>C
ENST00000455470.6:c.2431+4591T>C	ENSP00000406565.2:n.2431+4591T>C
ENST00000382292.7:c.7022T>C	ENSP00000371729.3:p.Leu2341Ser
ENST00000382298.7:c.7022T>C	ENSP00000371735.3:p.Leu2341Ser
ENST00000402364.1:c.4772T>C	ENSP00000385844.1:p.Leu1591Ser
ENST00000423156.1:c.1058-7370T>C	ENSP00000390925.1:n.1058-7370T>C
ENST00000455470.5:c.2129+4591T>C
NM_001278055.1:c.6581T>C	NP_001264984.1:p.Leu2194Ser
NM_014363.5:c.7022T>C	NP_055178.3:p.Leu2341Ser
XM_005266338.1:c.7049T>C	XP_005266395.1:p.Leu2350Ser
XM_011535038.1:c.7073T>C	XP_011533340.1:p.Leu2358Ser
XM_011535039.1:c.7040T>C	XP_011533341.1:p.Leu2347Ser
XM_005266338.2:c.7049T>C	XP_005266395.1:p.Leu2350Ser
XM_011535039.2:c.7040T>C	XP_011533341.1:p.Leu2347Ser
XM_017020539.1:c.7013T>C	XP_016876028.1:p.Leu2338Ser
XM_024449337.1:c.7049T>C	XP_024305105.1:p.Leu2350Ser
NM_014363.6:c.7022T>C MANE Select	NP_055178.3:p.Leu2341Ser
NM_001278055.2:c.6581T>C	NP_001264984.1:p.Leu2194Ser