Canonical Allele Identifier: CA6911163

Gene: SACS

Linked Data

• dbSNP Id: rs757494701
• ExAC: 13:23912058 A / G
• MyVariant Identifiers: chr13:g.23912058A>G (hg19) ; chr13:g.23337919A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337919A>G , CM000675.2:g.23337919A>G	GRCh38
NC_000013.10:g.23912058A>G , CM000675.1:g.23912058A>G	GRCh37
NC_000013.9:g.22810058A>G	NCBI36
NG_012342.1:g.100784T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15866T>C	ENSP00000508399.1:n.2185+15866T>C
ENST00000682944.1:c.5984T>C	ENSP00000507173.1:p.Val1995Ala
ENST00000683210.1:c.2185+15866T>C	ENSP00000506739.1:n.2185+15866T>C
ENST00000683270.1:c.5948T>C	ENSP00000507624.1:p.Val1983Ala
ENST00000683367.1:c.2177-8435T>C	ENSP00000507780.1:n.2177-8435T>C
ENST00000683489.1:c.2291+3666T>C	ENSP00000508403.1:n.2291+3666T>C
ENST00000683680.1:c.2318+3666T>C	ENSP00000507223.1:n.2318+3666T>C
ENST00000684163.1:c.2204-8435T>C	ENSP00000508262.1:n.2204-8435T>C
ENST00000684196.1:n.4543-8435T>C
ENST00000684325.1:c.2185+15866T>C	ENSP00000508121.1:n.2185+15866T>C
ENST00000684385.1:c.2221-8435T>C	ENSP00000507855.1:n.2221-8435T>C
ENST00000684497.1:c.2186-15275T>C	ENSP00000507057.1:n.2186-15275T>C
ENST00000382292.9:c.5957T>C MANE Select	ENSP00000371729.3:p.Val1986Ala
ENST00000423156.2:c.2186-8435T>C	ENSP00000390925.2:n.2186-8435T>C
ENST00000455470.6:c.2431+3526T>C	ENSP00000406565.2:n.2431+3526T>C
ENST00000382292.7:c.5957T>C	ENSP00000371729.3:p.Val1986Ala
ENST00000382298.7:c.5957T>C	ENSP00000371735.3:p.Val1986Ala
ENST00000402364.1:c.3707T>C	ENSP00000385844.1:p.Val1236Ala
ENST00000423156.1:c.1058-8435T>C	ENSP00000390925.1:n.1058-8435T>C
ENST00000455470.5:c.2129+3526T>C
NM_001278055.1:c.5516T>C	NP_001264984.1:p.Val1839Ala
NM_014363.5:c.5957T>C	NP_055178.3:p.Val1986Ala
XM_005266338.1:c.5984T>C	XP_005266395.1:p.Val1995Ala
XM_011535038.1:c.6008T>C	XP_011533340.1:p.Val2003Ala
XM_011535039.1:c.5975T>C	XP_011533341.1:p.Val1992Ala
XM_005266338.2:c.5984T>C	XP_005266395.1:p.Val1995Ala
XM_011535039.2:c.5975T>C	XP_011533341.1:p.Val1992Ala
XM_017020539.1:c.5948T>C	XP_016876028.1:p.Val1983Ala
XM_024449337.1:c.5984T>C	XP_024305105.1:p.Val1995Ala
NM_014363.6:c.5957T>C MANE Select	NP_055178.3:p.Val1986Ala
NM_001278055.2:c.5516T>C	NP_001264984.1:p.Val1839Ala