Canonical Allele Identifier: CA387526832

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23912972G>C (hg19) ; chr13:g.23338833G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23338833G>C , CM000675.2:g.23338833G>C	GRCh38
NC_000013.10:g.23912972G>C , CM000675.1:g.23912972G>C	GRCh37
NC_000013.9:g.22810972G>C	NCBI36
NG_012342.1:g.99870C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+14952C>G	ENSP00000508399.1:n.2185+14952C>G
ENST00000682944.1:c.5070C>G	ENSP00000507173.1:p.His1690Gln
ENST00000683210.1:c.2185+14952C>G	ENSP00000506739.1:n.2185+14952C>G
ENST00000683270.1:c.5034C>G	ENSP00000507624.1:p.His1678Gln
ENST00000683367.1:c.2177-9349C>G	ENSP00000507780.1:n.2177-9349C>G
ENST00000683489.1:c.2291+2752C>G	ENSP00000508403.1:n.2291+2752C>G
ENST00000683680.1:c.2318+2752C>G	ENSP00000507223.1:n.2318+2752C>G
ENST00000684163.1:c.2203+7978C>G	ENSP00000508262.1:n.2203+7978C>G
ENST00000684196.1:n.4543-9349C>G
ENST00000684325.1:c.2185+14952C>G	ENSP00000508121.1:n.2185+14952C>G
ENST00000684385.1:c.2220+7978C>G	ENSP00000507855.1:n.2220+7978C>G
ENST00000684497.1:c.2185+14952C>G	ENSP00000507057.1:n.2185+14952C>G
ENST00000382292.9:c.5043C>G MANE Select	ENSP00000371729.3:p.His1681Gln
ENST00000423156.2:c.2186-9349C>G	ENSP00000390925.2:n.2186-9349C>G
ENST00000455470.6:c.2431+2612C>G	ENSP00000406565.2:n.2431+2612C>G
ENST00000382292.7:c.5043C>G	ENSP00000371729.3:p.His1681Gln
ENST00000382298.7:c.5043C>G	ENSP00000371735.3:p.His1681Gln
ENST00000402364.1:c.2793C>G	ENSP00000385844.1:p.His931Gln
ENST00000423156.1:c.1058-9349C>G	ENSP00000390925.1:n.1058-9349C>G
ENST00000455470.5:c.2129+2612C>G
NM_001278055.1:c.4602C>G	NP_001264984.1:p.His1534Gln
NM_014363.5:c.5043C>G	NP_055178.3:p.His1681Gln
XM_005266338.1:c.5070C>G	XP_005266395.1:p.His1690Gln
XM_011535038.1:c.5094C>G	XP_011533340.1:p.His1698Gln
XM_011535039.1:c.5061C>G	XP_011533341.1:p.His1687Gln
XM_005266338.2:c.5070C>G	XP_005266395.1:p.His1690Gln
XM_011535039.2:c.5061C>G	XP_011533341.1:p.His1687Gln
XM_017020539.1:c.5034C>G	XP_016876028.1:p.His1678Gln
XM_024449337.1:c.5070C>G	XP_024305105.1:p.His1690Gln
NM_014363.6:c.5043C>G MANE Select	NP_055178.3:p.His1681Gln
NM_001278055.2:c.4602C>G	NP_001264984.1:p.His1534Gln