Canonical Allele Identifier: CA387532063

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23913822C>G (hg19) ; chr13:g.23339683C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23339683C>G , CM000675.2:g.23339683C>G	GRCh38
NC_000013.10:g.23913822C>G , CM000675.1:g.23913822C>G	GRCh37
NC_000013.9:g.22811822C>G	NCBI36
NG_012342.1:g.99020G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+14102G>C	ENSP00000508399.1:n.2185+14102G>C
ENST00000682944.1:c.4220G>C	ENSP00000507173.1:p.Cys1407Ser
ENST00000683210.1:c.2185+14102G>C	ENSP00000506739.1:n.2185+14102G>C
ENST00000683270.1:c.4184G>C	ENSP00000507624.1:p.Cys1395Ser
ENST00000683367.1:c.2177-10199G>C	ENSP00000507780.1:n.2177-10199G>C
ENST00000683489.1:c.2291+1902G>C	ENSP00000508403.1:n.2291+1902G>C
ENST00000683680.1:c.2318+1902G>C	ENSP00000507223.1:n.2318+1902G>C
ENST00000684163.1:c.2203+7128G>C	ENSP00000508262.1:n.2203+7128G>C
ENST00000684196.1:n.4543-10199G>C
ENST00000684325.1:c.2185+14102G>C	ENSP00000508121.1:n.2185+14102G>C
ENST00000684385.1:c.2220+7128G>C	ENSP00000507855.1:n.2220+7128G>C
ENST00000684497.1:c.2185+14102G>C	ENSP00000507057.1:n.2185+14102G>C
ENST00000382292.9:c.4193G>C MANE Select	ENSP00000371729.3:p.Cys1398Ser
ENST00000423156.2:c.2186-10199G>C	ENSP00000390925.2:n.2186-10199G>C
ENST00000455470.6:c.2431+1762G>C	ENSP00000406565.2:n.2431+1762G>C
ENST00000382292.7:c.4193G>C	ENSP00000371729.3:p.Cys1398Ser
ENST00000382298.7:c.4193G>C	ENSP00000371735.3:p.Cys1398Ser
ENST00000402364.1:c.1943G>C	ENSP00000385844.1:p.Cys648Ser
ENST00000423156.1:c.1058-10199G>C	ENSP00000390925.1:n.1058-10199G>C
ENST00000455470.5:c.2129+1762G>C
NM_001278055.1:c.3752G>C	NP_001264984.1:p.Cys1251Ser
NM_014363.5:c.4193G>C	NP_055178.3:p.Cys1398Ser
XM_005266338.1:c.4220G>C	XP_005266395.1:p.Cys1407Ser
XM_011535038.1:c.4244G>C	XP_011533340.1:p.Cys1415Ser
XM_011535039.1:c.4211G>C	XP_011533341.1:p.Cys1404Ser
XM_005266338.2:c.4220G>C	XP_005266395.1:p.Cys1407Ser
XM_011535039.2:c.4211G>C	XP_011533341.1:p.Cys1404Ser
XM_017020539.1:c.4184G>C	XP_016876028.1:p.Cys1395Ser
XM_024449337.1:c.4220G>C	XP_024305105.1:p.Cys1407Ser
NM_014363.6:c.4193G>C MANE Select	NP_055178.3:p.Cys1398Ser
NM_001278055.2:c.3752G>C	NP_001264984.1:p.Cys1251Ser