Canonical Allele Identifier: CA483159577

Gene: SACS

Linked Data

• dbSNP Id: rs1242871464
• MyVariant Identifiers: chr13:g.23907539T>C (hg19) ; chr13:g.23333400T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333400T>C , CM000675.2:g.23333400T>C	GRCh38
NC_000013.10:g.23907539T>C , CM000675.1:g.23907539T>C	GRCh37
NC_000013.9:g.22805539T>C	NCBI36
NG_012342.1:g.105303A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+20385A>G	ENSP00000508399.1:n.2185+20385A>G
ENST00000682944.1:c.10503A>G	ENSP00000507173.1:p.Ala3501=
ENST00000683210.1:c.2185+20385A>G	ENSP00000506739.1:n.2185+20385A>G
ENST00000683270.1:c.6446-3916A>G	ENSP00000507624.1:n.6446-3916A>G
ENST00000683367.1:c.2177-3916A>G	ENSP00000507780.1:n.2177-3916A>G
ENST00000683489.1:c.2292-3448A>G	ENSP00000508403.1:n.2292-3448A>G
ENST00000683680.1:c.2319-3448A>G	ENSP00000507223.1:n.2319-3448A>G
ENST00000684163.1:c.2204-3916A>G	ENSP00000508262.1:n.2204-3916A>G
ENST00000684196.1:n.4543-3916A>G
ENST00000684325.1:c.2186-11726A>G	ENSP00000508121.1:n.2186-11726A>G
ENST00000684385.1:c.2221-3916A>G	ENSP00000507855.1:n.2221-3916A>G
ENST00000684497.1:c.2186-10756A>G	ENSP00000507057.1:n.2186-10756A>G
ENST00000382292.9:c.10476A>G MANE Select	ENSP00000371729.3:p.Ala3492=
ENST00000423156.2:c.2186-3916A>G	ENSP00000390925.2:n.2186-3916A>G
ENST00000455470.6:c.2432-3916A>G	ENSP00000406565.2:n.2432-3916A>G
ENST00000382292.7:c.10476A>G	ENSP00000371729.3:p.Ala3492=
ENST00000382298.7:c.10476A>G	ENSP00000371735.3:p.Ala3492=
ENST00000402364.1:c.8226A>G	ENSP00000385844.1:p.Ala2742=
ENST00000423156.1:c.1058-3916A>G	ENSP00000390925.1:n.1058-3916A>G
ENST00000455470.5:c.2130-3916A>G
NM_001278055.1:c.10035A>G	NP_001264984.1:p.Ala3345=
NM_014363.5:c.10476A>G	NP_055178.3:p.Ala3492=
XM_005266338.1:c.10503A>G	XP_005266395.1:p.Ala3501=
XM_011535038.1:c.10527A>G	XP_011533340.1:p.Ala3509=
XM_011535039.1:c.10494A>G	XP_011533341.1:p.Ala3498=
XM_005266338.2:c.10503A>G	XP_005266395.1:p.Ala3501=
XM_011535039.2:c.10494A>G	XP_011533341.1:p.Ala3498=
XM_017020539.1:c.10467A>G	XP_016876028.1:p.Ala3489=
XM_024449337.1:c.10503A>G	XP_024305105.1:p.Ala3501=
NM_014363.6:c.10476A>G MANE Select	NP_055178.3:p.Ala3492=
NM_001278055.2:c.10035A>G	NP_001264984.1:p.Ala3345=