Canonical Allele Identifier: CA387548695

Gene: SACS

Linked Data

• gnomAD v4: 13-23355225-G-A
• COSMIC: COSM695780 ; COSM1147192
• MyVariant Identifiers: chr13:g.23929364G>A (hg19) ; chr13:g.23355225G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23355225G>A , CM000675.2:g.23355225G>A	GRCh38
NC_000013.10:g.23929364G>A , CM000675.1:g.23929364G>A	GRCh37
NC_000013.9:g.22827364G>A	NCBI36
NG_012342.1:g.83478C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.1387C>T	ENSP00000508399.1:p.His463Tyr
ENST00000682944.1:c.1387C>T	ENSP00000507173.1:p.His463Tyr
ENST00000683154.1:n.1525C>T
ENST00000683210.1:c.1387C>T	ENSP00000506739.1:p.His463Tyr
ENST00000683270.1:c.1378C>T	ENSP00000507624.1:p.His460Tyr
ENST00000683367.1:c.1378C>T	ENSP00000507780.1:p.His460Tyr
ENST00000683489.1:c.1387C>T	ENSP00000508403.1:p.His463Tyr
ENST00000683680.1:c.1387C>T	ENSP00000507223.1:p.His463Tyr
ENST00000684163.1:c.1378C>T	ENSP00000508262.1:p.His460Tyr
ENST00000684196.1:n.3744C>T
ENST00000684325.1:c.1387C>T	ENSP00000508121.1:p.His463Tyr
ENST00000684385.1:c.1387C>T	ENSP00000507855.1:p.His463Tyr
ENST00000684497.1:c.1387C>T	ENSP00000507057.1:p.His463Tyr
ENST00000382292.9:c.1387C>T MANE Select	ENSP00000371729.3:p.His463Tyr
ENST00000423156.2:c.1387C>T	ENSP00000390925.2:p.His463Tyr
ENST00000455470.6:c.1387C>T	ENSP00000406565.2:p.His463Tyr
ENST00000382292.7:c.1387C>T	ENSP00000371729.3:p.His463Tyr
ENST00000382298.7:c.1387C>T	ENSP00000371735.3:p.His463Tyr
ENST00000402364.1:c.-864C>T	ENSP00000385844.1:n.-864C>T
ENST00000423156.1:c.259C>T	ENSP00000390925.1:p.His87Tyr
ENST00000455470.5:c.1085C>T
NM_001278055.1:c.946C>T	NP_001264984.1:p.His316Tyr
NM_014363.5:c.1387C>T	NP_055178.3:p.His463Tyr
XM_005266338.1:c.1387C>T	XP_005266395.1:p.His463Tyr
XM_011535038.1:c.1411C>T	XP_011533340.1:p.His471Tyr
XM_011535039.1:c.1378C>T	XP_011533341.1:p.His460Tyr
XM_005266338.2:c.1387C>T	XP_005266395.1:p.His463Tyr
XM_011535039.2:c.1378C>T	XP_011533341.1:p.His460Tyr
XM_017020539.1:c.1378C>T	XP_016876028.1:p.His460Tyr
XM_024449337.1:c.1387C>T	XP_024305105.1:p.His463Tyr
NM_014363.6:c.1387C>T MANE Select	NP_055178.3:p.His463Tyr
NM_001278055.2:c.946C>T	NP_001264984.1:p.His316Tyr