Canonical Allele Identifier: CA6910004

Gene: SACS

Linked Data

• dbSNP Id: rs760534745
• ExAC: 13:23904804 T / A
• gnomAD v2: 13-23904804-T-A
• gnomAD v4: 13-23330665-T-A
• MyVariant Identifiers: chr13:g.23904804T>A (hg19) ; chr13:g.23330665T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330665T>A , CM000675.2:g.23330665T>A	GRCh38
NC_000013.10:g.23904804T>A , CM000675.1:g.23904804T>A	GRCh37
NC_000013.9:g.22802804T>A	NCBI36
NG_012342.1:g.108038A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18550A>T	ENSP00000508399.1:n.2186-18550A>T
ENST00000682944.1:c.13238A>T	ENSP00000507173.1:p.Glu4413Val
ENST00000683210.1:c.2185+23120A>T	ENSP00000506739.1:n.2185+23120A>T
ENST00000683270.1:c.6446-1181A>T	ENSP00000507624.1:n.6446-1181A>T
ENST00000683367.1:c.2177-1181A>T	ENSP00000507780.1:n.2177-1181A>T
ENST00000683489.1:c.2292-713A>T	ENSP00000508403.1:n.2292-713A>T
ENST00000683680.1:c.2319-713A>T	ENSP00000507223.1:n.2319-713A>T
ENST00000684163.1:c.2204-1181A>T	ENSP00000508262.1:n.2204-1181A>T
ENST00000684196.1:n.4543-1181A>T
ENST00000684325.1:c.2186-8991A>T	ENSP00000508121.1:n.2186-8991A>T
ENST00000684385.1:c.2221-1181A>T	ENSP00000507855.1:n.2221-1181A>T
ENST00000684497.1:c.2186-8021A>T	ENSP00000507057.1:n.2186-8021A>T
ENST00000382292.9:c.13211A>T MANE Select	ENSP00000371729.3:p.Glu4404Val
ENST00000423156.2:c.2186-1181A>T	ENSP00000390925.2:n.2186-1181A>T
ENST00000455470.6:c.2432-1181A>T	ENSP00000406565.2:n.2432-1181A>T
ENST00000382292.7:c.13211A>T	ENSP00000371729.3:p.Glu4404Val
ENST00000382298.7:c.13211A>T	ENSP00000371735.3:p.Glu4404Val
ENST00000402364.1:c.10961A>T	ENSP00000385844.1:p.Glu3654Val
ENST00000423156.1:c.1058-1181A>T	ENSP00000390925.1:n.1058-1181A>T
ENST00000455470.5:c.2130-1181A>T
NM_001278055.1:c.12770A>T	NP_001264984.1:p.Glu4257Val
NM_014363.5:c.13211A>T	NP_055178.3:p.Glu4404Val
XM_005266338.1:c.13238A>T	XP_005266395.1:p.Glu4413Val
XM_011535038.1:c.13262A>T	XP_011533340.1:p.Glu4421Val
XM_011535039.1:c.13229A>T	XP_011533341.1:p.Glu4410Val
XM_005266338.2:c.13238A>T	XP_005266395.1:p.Glu4413Val
XM_011535039.2:c.13229A>T	XP_011533341.1:p.Glu4410Val
XM_017020539.1:c.13202A>T	XP_016876028.1:p.Glu4401Val
XM_024449337.1:c.13238A>T	XP_024305105.1:p.Glu4413Val
NM_014363.6:c.13211A>T MANE Select	NP_055178.3:p.Glu4404Val
NM_001278055.2:c.12770A>T	NP_001264984.1:p.Glu4257Val