Canonical Allele Identifier: CA246653486

Gene: SACS

Linked Data

• dbSNP Id: rs935952253
• MyVariant Identifiers: chr13:g.23908735T>C (hg19) ; chr13:g.23334596T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334596T>C , CM000675.2:g.23334596T>C	GRCh38
NC_000013.10:g.23908735T>C , CM000675.1:g.23908735T>C	GRCh37
NC_000013.9:g.22806735T>C	NCBI36
NG_012342.1:g.104107A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+19189A>G	ENSP00000508399.1:n.2185+19189A>G
ENST00000682944.1:c.9307A>G	ENSP00000507173.1:p.Thr3103Ala
ENST00000683210.1:c.2185+19189A>G	ENSP00000506739.1:n.2185+19189A>G
ENST00000683270.1:c.6445+2826A>G	ENSP00000507624.1:n.6445+2826A>G
ENST00000683367.1:c.2177-5112A>G	ENSP00000507780.1:n.2177-5112A>G
ENST00000683489.1:c.2292-4644A>G	ENSP00000508403.1:n.2292-4644A>G
ENST00000683680.1:c.2319-4644A>G	ENSP00000507223.1:n.2319-4644A>G
ENST00000684163.1:c.2204-5112A>G	ENSP00000508262.1:n.2204-5112A>G
ENST00000684196.1:n.4543-5112A>G
ENST00000684325.1:c.2186-12922A>G	ENSP00000508121.1:n.2186-12922A>G
ENST00000684385.1:c.2221-5112A>G	ENSP00000507855.1:n.2221-5112A>G
ENST00000684497.1:c.2186-11952A>G	ENSP00000507057.1:n.2186-11952A>G
ENST00000382292.9:c.9280A>G MANE Select	ENSP00000371729.3:p.Thr3094Ala
ENST00000423156.2:c.2186-5112A>G	ENSP00000390925.2:n.2186-5112A>G
ENST00000455470.6:c.2432-5112A>G	ENSP00000406565.2:n.2432-5112A>G
ENST00000382292.7:c.9280A>G	ENSP00000371729.3:p.Thr3094Ala
ENST00000382298.7:c.9280A>G	ENSP00000371735.3:p.Thr3094Ala
ENST00000402364.1:c.7030A>G	ENSP00000385844.1:p.Thr2344Ala
ENST00000423156.1:c.1058-5112A>G	ENSP00000390925.1:n.1058-5112A>G
ENST00000455470.5:c.2130-5112A>G
NM_001278055.1:c.8839A>G	NP_001264984.1:p.Thr2947Ala
NM_014363.5:c.9280A>G	NP_055178.3:p.Thr3094Ala
XM_005266338.1:c.9307A>G	XP_005266395.1:p.Thr3103Ala
XM_011535038.1:c.9331A>G	XP_011533340.1:p.Thr3111Ala
XM_011535039.1:c.9298A>G	XP_011533341.1:p.Thr3100Ala
XM_005266338.2:c.9307A>G	XP_005266395.1:p.Thr3103Ala
XM_011535039.2:c.9298A>G	XP_011533341.1:p.Thr3100Ala
XM_017020539.1:c.9271A>G	XP_016876028.1:p.Thr3091Ala
XM_024449337.1:c.9307A>G	XP_024305105.1:p.Thr3103Ala
NM_014363.6:c.9280A>G MANE Select	NP_055178.3:p.Thr3094Ala
NM_001278055.2:c.8839A>G	NP_001264984.1:p.Thr2947Ala