Canonical Allele Identifier: CA387517043

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23909763T>G (hg19) ; chr13:g.23335624T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23335624T>G , CM000675.2:g.23335624T>G	GRCh38
NC_000013.10:g.23909763T>G , CM000675.1:g.23909763T>G	GRCh37
NC_000013.9:g.22807763T>G	NCBI36
NG_012342.1:g.103079A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+18161A>C	ENSP00000508399.1:n.2185+18161A>C
ENST00000682944.1:c.8279A>C	ENSP00000507173.1:p.Glu2760Ala
ENST00000683210.1:c.2185+18161A>C	ENSP00000506739.1:n.2185+18161A>C
ENST00000683270.1:c.6445+1798A>C	ENSP00000507624.1:n.6445+1798A>C
ENST00000683367.1:c.2177-6140A>C	ENSP00000507780.1:n.2177-6140A>C
ENST00000683489.1:c.2292-5672A>C	ENSP00000508403.1:n.2292-5672A>C
ENST00000683680.1:c.2319-5672A>C	ENSP00000507223.1:n.2319-5672A>C
ENST00000684163.1:c.2204-6140A>C	ENSP00000508262.1:n.2204-6140A>C
ENST00000684196.1:n.4543-6140A>C
ENST00000684325.1:c.2186-13950A>C	ENSP00000508121.1:n.2186-13950A>C
ENST00000684385.1:c.2221-6140A>C	ENSP00000507855.1:n.2221-6140A>C
ENST00000684497.1:c.2186-12980A>C	ENSP00000507057.1:n.2186-12980A>C
ENST00000382292.9:c.8252A>C MANE Select	ENSP00000371729.3:p.Glu2751Ala
ENST00000423156.2:c.2186-6140A>C	ENSP00000390925.2:n.2186-6140A>C
ENST00000455470.6:c.2431+5821A>C	ENSP00000406565.2:n.2431+5821A>C
ENST00000382292.7:c.8252A>C	ENSP00000371729.3:p.Glu2751Ala
ENST00000382298.7:c.8252A>C	ENSP00000371735.3:p.Glu2751Ala
ENST00000402364.1:c.6002A>C	ENSP00000385844.1:p.Glu2001Ala
ENST00000423156.1:c.1058-6140A>C	ENSP00000390925.1:n.1058-6140A>C
ENST00000455470.5:c.2129+5821A>C
NM_001278055.1:c.7811A>C	NP_001264984.1:p.Glu2604Ala
NM_014363.5:c.8252A>C	NP_055178.3:p.Glu2751Ala
XM_005266338.1:c.8279A>C	XP_005266395.1:p.Glu2760Ala
XM_011535038.1:c.8303A>C	XP_011533340.1:p.Glu2768Ala
XM_011535039.1:c.8270A>C	XP_011533341.1:p.Glu2757Ala
XM_005266338.2:c.8279A>C	XP_005266395.1:p.Glu2760Ala
XM_011535039.2:c.8270A>C	XP_011533341.1:p.Glu2757Ala
XM_017020539.1:c.8243A>C	XP_016876028.1:p.Glu2748Ala
XM_024449337.1:c.8279A>C	XP_024305105.1:p.Glu2760Ala
NM_014363.6:c.8252A>C MANE Select	NP_055178.3:p.Glu2751Ala
NM_001278055.2:c.7811A>C	NP_001264984.1:p.Glu2604Ala