Canonical Allele Identifier: CA387525768

Gene: SACS

Linked Data

• COSMIC: COSM946051 ; COSM1586931
• MyVariant Identifiers: chr13:g.23912622G>T (hg19) ; chr13:g.23338483G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23338483G>T , CM000675.2:g.23338483G>T	GRCh38
NC_000013.10:g.23912622G>T , CM000675.1:g.23912622G>T	GRCh37
NC_000013.9:g.22810622G>T	NCBI36
NG_012342.1:g.100220C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15302C>A	ENSP00000508399.1:n.2185+15302C>A
ENST00000682944.1:c.5420C>A	ENSP00000507173.1:p.Ser1807Tyr
ENST00000683210.1:c.2185+15302C>A	ENSP00000506739.1:n.2185+15302C>A
ENST00000683270.1:c.5384C>A	ENSP00000507624.1:p.Ser1795Tyr
ENST00000683367.1:c.2177-8999C>A	ENSP00000507780.1:n.2177-8999C>A
ENST00000683489.1:c.2291+3102C>A	ENSP00000508403.1:n.2291+3102C>A
ENST00000683680.1:c.2318+3102C>A	ENSP00000507223.1:n.2318+3102C>A
ENST00000684163.1:c.2203+8328C>A	ENSP00000508262.1:n.2203+8328C>A
ENST00000684196.1:n.4543-8999C>A
ENST00000684325.1:c.2185+15302C>A	ENSP00000508121.1:n.2185+15302C>A
ENST00000684385.1:c.2220+8328C>A	ENSP00000507855.1:n.2220+8328C>A
ENST00000684497.1:c.2185+15302C>A	ENSP00000507057.1:n.2185+15302C>A
ENST00000382292.9:c.5393C>A MANE Select	ENSP00000371729.3:p.Ser1798Tyr
ENST00000423156.2:c.2186-8999C>A	ENSP00000390925.2:n.2186-8999C>A
ENST00000455470.6:c.2431+2962C>A	ENSP00000406565.2:n.2431+2962C>A
ENST00000382292.7:c.5393C>A	ENSP00000371729.3:p.Ser1798Tyr
ENST00000382298.7:c.5393C>A	ENSP00000371735.3:p.Ser1798Tyr
ENST00000402364.1:c.3143C>A	ENSP00000385844.1:p.Ser1048Tyr
ENST00000423156.1:c.1058-8999C>A	ENSP00000390925.1:n.1058-8999C>A
ENST00000455470.5:c.2129+2962C>A
NM_001278055.1:c.4952C>A	NP_001264984.1:p.Ser1651Tyr
NM_014363.5:c.5393C>A	NP_055178.3:p.Ser1798Tyr
XM_005266338.1:c.5420C>A	XP_005266395.1:p.Ser1807Tyr
XM_011535038.1:c.5444C>A	XP_011533340.1:p.Ser1815Tyr
XM_011535039.1:c.5411C>A	XP_011533341.1:p.Ser1804Tyr
XM_005266338.2:c.5420C>A	XP_005266395.1:p.Ser1807Tyr
XM_011535039.2:c.5411C>A	XP_011533341.1:p.Ser1804Tyr
XM_017020539.1:c.5384C>A	XP_016876028.1:p.Ser1795Tyr
XM_024449337.1:c.5420C>A	XP_024305105.1:p.Ser1807Tyr
NM_014363.6:c.5393C>A MANE Select	NP_055178.3:p.Ser1798Tyr
NM_001278055.2:c.4952C>A	NP_001264984.1:p.Ser1651Tyr