Canonical Allele Identifier: CA387513798

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23908292C>A (hg19) ; chr13:g.23334153C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334153C>A , CM000675.2:g.23334153C>A	GRCh38
NC_000013.10:g.23908292C>A , CM000675.1:g.23908292C>A	GRCh37
NC_000013.9:g.22806292C>A	NCBI36
NG_012342.1:g.104550G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19632G>T	ENSP00000508399.1:n.2185+19632G>T
ENST00000682944.1:c.9750G>T	ENSP00000507173.1:p.Glu3250Asp
ENST00000683210.1:c.2185+19632G>T	ENSP00000506739.1:n.2185+19632G>T
ENST00000683270.1:c.6445+3269G>T	ENSP00000507624.1:n.6445+3269G>T
ENST00000683367.1:c.2177-4669G>T	ENSP00000507780.1:n.2177-4669G>T
ENST00000683489.1:c.2292-4201G>T	ENSP00000508403.1:n.2292-4201G>T
ENST00000683680.1:c.2319-4201G>T	ENSP00000507223.1:n.2319-4201G>T
ENST00000684163.1:c.2204-4669G>T	ENSP00000508262.1:n.2204-4669G>T
ENST00000684196.1:n.4543-4669G>T
ENST00000684325.1:c.2186-12479G>T	ENSP00000508121.1:n.2186-12479G>T
ENST00000684385.1:c.2221-4669G>T	ENSP00000507855.1:n.2221-4669G>T
ENST00000684497.1:c.2186-11509G>T	ENSP00000507057.1:n.2186-11509G>T
ENST00000382292.9:c.9723G>T MANE Select	ENSP00000371729.3:p.Glu3241Asp
ENST00000423156.2:c.2186-4669G>T	ENSP00000390925.2:n.2186-4669G>T
ENST00000455470.6:c.2432-4669G>T	ENSP00000406565.2:n.2432-4669G>T
ENST00000382292.7:c.9723G>T	ENSP00000371729.3:p.Glu3241Asp
ENST00000382298.7:c.9723G>T	ENSP00000371735.3:p.Glu3241Asp
ENST00000402364.1:c.7473G>T	ENSP00000385844.1:p.Glu2491Asp
ENST00000423156.1:c.1058-4669G>T	ENSP00000390925.1:n.1058-4669G>T
ENST00000455470.5:c.2130-4669G>T
NM_001278055.1:c.9282G>T	NP_001264984.1:p.Glu3094Asp
NM_014363.5:c.9723G>T	NP_055178.3:p.Glu3241Asp
XM_005266338.1:c.9750G>T	XP_005266395.1:p.Glu3250Asp
XM_011535038.1:c.9774G>T	XP_011533340.1:p.Glu3258Asp
XM_011535039.1:c.9741G>T	XP_011533341.1:p.Glu3247Asp
XM_005266338.2:c.9750G>T	XP_005266395.1:p.Glu3250Asp
XM_011535039.2:c.9741G>T	XP_011533341.1:p.Glu3247Asp
XM_017020539.1:c.9714G>T	XP_016876028.1:p.Glu3238Asp
XM_024449337.1:c.9750G>T	XP_024305105.1:p.Glu3250Asp
NM_014363.6:c.9723G>T MANE Select	NP_055178.3:p.Glu3241Asp
NM_001278055.2:c.9282G>T	NP_001264984.1:p.Glu3094Asp