Canonical Allele Identifier: CA387506511

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23905102C>G (hg19) ; chr13:g.23330963C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330963C>G , CM000675.2:g.23330963C>G	GRCh38
NC_000013.10:g.23905102C>G , CM000675.1:g.23905102C>G	GRCh37
NC_000013.9:g.22803102C>G	NCBI36
NG_012342.1:g.107740G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2186-18848G>C	ENSP00000508399.1:n.2186-18848G>C
ENST00000682944.1:c.12940G>C	ENSP00000507173.1:p.Glu4314Gln
ENST00000683210.1:c.2185+22822G>C	ENSP00000506739.1:n.2185+22822G>C
ENST00000683270.1:c.6446-1479G>C	ENSP00000507624.1:n.6446-1479G>C
ENST00000683367.1:c.2177-1479G>C	ENSP00000507780.1:n.2177-1479G>C
ENST00000683489.1:c.2292-1011G>C	ENSP00000508403.1:n.2292-1011G>C
ENST00000683680.1:c.2319-1011G>C	ENSP00000507223.1:n.2319-1011G>C
ENST00000684163.1:c.2204-1479G>C	ENSP00000508262.1:n.2204-1479G>C
ENST00000684196.1:n.4543-1479G>C
ENST00000684325.1:c.2186-9289G>C	ENSP00000508121.1:n.2186-9289G>C
ENST00000684385.1:c.2221-1479G>C	ENSP00000507855.1:n.2221-1479G>C
ENST00000684497.1:c.2186-8319G>C	ENSP00000507057.1:n.2186-8319G>C
ENST00000382292.9:c.12913G>C MANE Select	ENSP00000371729.3:p.Glu4305Gln
ENST00000423156.2:c.2186-1479G>C	ENSP00000390925.2:n.2186-1479G>C
ENST00000455470.6:c.2432-1479G>C	ENSP00000406565.2:n.2432-1479G>C
ENST00000382292.7:c.12913G>C	ENSP00000371729.3:p.Glu4305Gln
ENST00000382298.7:c.12913G>C	ENSP00000371735.3:p.Glu4305Gln
ENST00000402364.1:c.10663G>C	ENSP00000385844.1:p.Glu3555Gln
ENST00000423156.1:c.1058-1479G>C	ENSP00000390925.1:n.1058-1479G>C
ENST00000455470.5:c.2130-1479G>C
NM_001278055.1:c.12472G>C	NP_001264984.1:p.Glu4158Gln
NM_014363.5:c.12913G>C	NP_055178.3:p.Glu4305Gln
XM_005266338.1:c.12940G>C	XP_005266395.1:p.Glu4314Gln
XM_011535038.1:c.12964G>C	XP_011533340.1:p.Glu4322Gln
XM_011535039.1:c.12931G>C	XP_011533341.1:p.Glu4311Gln
XM_005266338.2:c.12940G>C	XP_005266395.1:p.Glu4314Gln
XM_011535039.2:c.12931G>C	XP_011533341.1:p.Glu4311Gln
XM_017020539.1:c.12904G>C	XP_016876028.1:p.Glu4302Gln
XM_024449337.1:c.12940G>C	XP_024305105.1:p.Glu4314Gln
NM_014363.6:c.12913G>C MANE Select	NP_055178.3:p.Glu4305Gln
NM_001278055.2:c.12472G>C	NP_001264984.1:p.Glu4158Gln