Canonical Allele Identifier: CA387504719

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23904336A>C (hg19) ; chr13:g.23330197A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330197A>C , CM000675.2:g.23330197A>C	GRCh38
NC_000013.10:g.23904336A>C , CM000675.1:g.23904336A>C	GRCh37
NC_000013.9:g.22802336A>C	NCBI36
NG_012342.1:g.108506T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18082T>G	ENSP00000508399.1:n.2186-18082T>G
ENST00000682944.1:c.13706T>G	ENSP00000507173.1:p.Val4569Gly
ENST00000683210.1:c.2185+23588T>G	ENSP00000506739.1:n.2185+23588T>G
ENST00000683270.1:c.6446-713T>G	ENSP00000507624.1:n.6446-713T>G
ENST00000683367.1:c.2177-713T>G	ENSP00000507780.1:n.2177-713T>G
ENST00000683489.1:c.2292-245T>G	ENSP00000508403.1:n.2292-245T>G
ENST00000683680.1:c.2319-245T>G	ENSP00000507223.1:n.2319-245T>G
ENST00000684163.1:c.2204-713T>G	ENSP00000508262.1:n.2204-713T>G
ENST00000684196.1:n.4543-713T>G
ENST00000684325.1:c.2186-8523T>G	ENSP00000508121.1:n.2186-8523T>G
ENST00000684385.1:c.2221-713T>G	ENSP00000507855.1:n.2221-713T>G
ENST00000684497.1:c.2186-7553T>G	ENSP00000507057.1:n.2186-7553T>G
ENST00000382292.9:c.13679T>G MANE Select	ENSP00000371729.3:p.Val4560Gly
ENST00000423156.2:c.2186-713T>G	ENSP00000390925.2:n.2186-713T>G
ENST00000455470.6:c.2432-713T>G	ENSP00000406565.2:n.2432-713T>G
ENST00000382292.7:c.13679T>G	ENSP00000371729.3:p.Val4560Gly
ENST00000382298.7:c.13679T>G	ENSP00000371735.3:p.Val4560Gly
ENST00000402364.1:c.11429T>G	ENSP00000385844.1:p.Val3810Gly
ENST00000423156.1:c.1058-713T>G	ENSP00000390925.1:n.1058-713T>G
ENST00000455470.5:c.2130-713T>G
NM_001278055.1:c.13238T>G	NP_001264984.1:p.Val4413Gly
NM_014363.5:c.13679T>G	NP_055178.3:p.Val4560Gly
XM_005266338.1:c.13706T>G	XP_005266395.1:p.Val4569Gly
XM_011535038.1:c.13730T>G	XP_011533340.1:p.Val4577Gly
XM_011535039.1:c.13697T>G	XP_011533341.1:p.Val4566Gly
XM_005266338.2:c.13706T>G	XP_005266395.1:p.Val4569Gly
XM_011535039.2:c.13697T>G	XP_011533341.1:p.Val4566Gly
XM_017020539.1:c.13670T>G	XP_016876028.1:p.Val4557Gly
XM_024449337.1:c.13706T>G	XP_024305105.1:p.Val4569Gly
NM_014363.6:c.13679T>G MANE Select	NP_055178.3:p.Val4560Gly
NM_001278055.2:c.13238T>G	NP_001264984.1:p.Val4413Gly