Canonical Allele Identifier: CA387512700

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23907800T>G (hg19) ; chr13:g.23333661T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333661T>G , CM000675.2:g.23333661T>G	GRCh38
NC_000013.10:g.23907800T>G , CM000675.1:g.23907800T>G	GRCh37
NC_000013.9:g.22805800T>G	NCBI36
NG_012342.1:g.105042A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+20124A>C	ENSP00000508399.1:n.2185+20124A>C
ENST00000682944.1:c.10242A>C	ENSP00000507173.1:p.Lys3414Asn
ENST00000683210.1:c.2185+20124A>C	ENSP00000506739.1:n.2185+20124A>C
ENST00000683270.1:c.6445+3761A>C	ENSP00000507624.1:n.6445+3761A>C
ENST00000683367.1:c.2177-4177A>C	ENSP00000507780.1:n.2177-4177A>C
ENST00000683489.1:c.2292-3709A>C	ENSP00000508403.1:n.2292-3709A>C
ENST00000683680.1:c.2319-3709A>C	ENSP00000507223.1:n.2319-3709A>C
ENST00000684163.1:c.2204-4177A>C	ENSP00000508262.1:n.2204-4177A>C
ENST00000684196.1:n.4543-4177A>C
ENST00000684325.1:c.2186-11987A>C	ENSP00000508121.1:n.2186-11987A>C
ENST00000684385.1:c.2221-4177A>C	ENSP00000507855.1:n.2221-4177A>C
ENST00000684497.1:c.2186-11017A>C	ENSP00000507057.1:n.2186-11017A>C
ENST00000382292.9:c.10215A>C MANE Select	ENSP00000371729.3:p.Lys3405Asn
ENST00000423156.2:c.2186-4177A>C	ENSP00000390925.2:n.2186-4177A>C
ENST00000455470.6:c.2432-4177A>C	ENSP00000406565.2:n.2432-4177A>C
ENST00000382292.7:c.10215A>C	ENSP00000371729.3:p.Lys3405Asn
ENST00000382298.7:c.10215A>C	ENSP00000371735.3:p.Lys3405Asn
ENST00000402364.1:c.7965A>C	ENSP00000385844.1:p.Lys2655Asn
ENST00000423156.1:c.1058-4177A>C	ENSP00000390925.1:n.1058-4177A>C
ENST00000455470.5:c.2130-4177A>C
NM_001278055.1:c.9774A>C	NP_001264984.1:p.Lys3258Asn
NM_014363.5:c.10215A>C	NP_055178.3:p.Lys3405Asn
XM_005266338.1:c.10242A>C	XP_005266395.1:p.Lys3414Asn
XM_011535038.1:c.10266A>C	XP_011533340.1:p.Lys3422Asn
XM_011535039.1:c.10233A>C	XP_011533341.1:p.Lys3411Asn
XM_005266338.2:c.10242A>C	XP_005266395.1:p.Lys3414Asn
XM_011535039.2:c.10233A>C	XP_011533341.1:p.Lys3411Asn
XM_017020539.1:c.10206A>C	XP_016876028.1:p.Lys3402Asn
XM_024449337.1:c.10242A>C	XP_024305105.1:p.Lys3414Asn
NM_014363.6:c.10215A>C MANE Select	NP_055178.3:p.Lys3405Asn
NM_001278055.2:c.9774A>C	NP_001264984.1:p.Lys3258Asn