Canonical Allele Identifier: CA387506200

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23905002G>C (hg19) ; chr13:g.23330863G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330863G>C , CM000675.2:g.23330863G>C	GRCh38
NC_000013.10:g.23905002G>C , CM000675.1:g.23905002G>C	GRCh37
NC_000013.9:g.22803002G>C	NCBI36
NG_012342.1:g.107840C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2186-18748C>G	ENSP00000508399.1:n.2186-18748C>G
ENST00000682944.1:c.13040C>G	ENSP00000507173.1:p.Pro4347Arg
ENST00000683210.1:c.2185+22922C>G	ENSP00000506739.1:n.2185+22922C>G
ENST00000683270.1:c.6446-1379C>G	ENSP00000507624.1:n.6446-1379C>G
ENST00000683367.1:c.2177-1379C>G	ENSP00000507780.1:n.2177-1379C>G
ENST00000683489.1:c.2292-911C>G	ENSP00000508403.1:n.2292-911C>G
ENST00000683680.1:c.2319-911C>G	ENSP00000507223.1:n.2319-911C>G
ENST00000684163.1:c.2204-1379C>G	ENSP00000508262.1:n.2204-1379C>G
ENST00000684196.1:n.4543-1379C>G
ENST00000684325.1:c.2186-9189C>G	ENSP00000508121.1:n.2186-9189C>G
ENST00000684385.1:c.2221-1379C>G	ENSP00000507855.1:n.2221-1379C>G
ENST00000684497.1:c.2186-8219C>G	ENSP00000507057.1:n.2186-8219C>G
ENST00000382292.9:c.13013C>G MANE Select	ENSP00000371729.3:p.Pro4338Arg
ENST00000423156.2:c.2186-1379C>G	ENSP00000390925.2:n.2186-1379C>G
ENST00000455470.6:c.2432-1379C>G	ENSP00000406565.2:n.2432-1379C>G
ENST00000382292.7:c.13013C>G	ENSP00000371729.3:p.Pro4338Arg
ENST00000382298.7:c.13013C>G	ENSP00000371735.3:p.Pro4338Arg
ENST00000402364.1:c.10763C>G	ENSP00000385844.1:p.Pro3588Arg
ENST00000423156.1:c.1058-1379C>G	ENSP00000390925.1:n.1058-1379C>G
ENST00000455470.5:c.2130-1379C>G
NM_001278055.1:c.12572C>G	NP_001264984.1:p.Pro4191Arg
NM_014363.5:c.13013C>G	NP_055178.3:p.Pro4338Arg
XM_005266338.1:c.13040C>G	XP_005266395.1:p.Pro4347Arg
XM_011535038.1:c.13064C>G	XP_011533340.1:p.Pro4355Arg
XM_011535039.1:c.13031C>G	XP_011533341.1:p.Pro4344Arg
XM_005266338.2:c.13040C>G	XP_005266395.1:p.Pro4347Arg
XM_011535039.2:c.13031C>G	XP_011533341.1:p.Pro4344Arg
XM_017020539.1:c.13004C>G	XP_016876028.1:p.Pro4335Arg
XM_024449337.1:c.13040C>G	XP_024305105.1:p.Pro4347Arg
NM_014363.6:c.13013C>G MANE Select	NP_055178.3:p.Pro4338Arg
NM_001278055.2:c.12572C>G	NP_001264984.1:p.Pro4191Arg