Canonical Allele Identifier: CA387512162

Gene: SACS

Linked Data

• gnomAD v4: 13-23333414-G-A
• COSMIC: COSM5899091 ; COSM5899092
• MyVariant Identifiers: chr13:g.23907553G>A (hg19) ; chr13:g.23333414G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333414G>A , CM000675.2:g.23333414G>A	GRCh38
NC_000013.10:g.23907553G>A , CM000675.1:g.23907553G>A	GRCh37
NC_000013.9:g.22805553G>A	NCBI36
NG_012342.1:g.105289C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+20371C>T	ENSP00000508399.1:n.2185+20371C>T
ENST00000682944.1:c.10489C>T	ENSP00000507173.1:p.Leu3497Phe
ENST00000683210.1:c.2185+20371C>T	ENSP00000506739.1:n.2185+20371C>T
ENST00000683270.1:c.6446-3930C>T	ENSP00000507624.1:n.6446-3930C>T
ENST00000683367.1:c.2177-3930C>T	ENSP00000507780.1:n.2177-3930C>T
ENST00000683489.1:c.2292-3462C>T	ENSP00000508403.1:n.2292-3462C>T
ENST00000683680.1:c.2319-3462C>T	ENSP00000507223.1:n.2319-3462C>T
ENST00000684163.1:c.2204-3930C>T	ENSP00000508262.1:n.2204-3930C>T
ENST00000684196.1:n.4543-3930C>T
ENST00000684325.1:c.2186-11740C>T	ENSP00000508121.1:n.2186-11740C>T
ENST00000684385.1:c.2221-3930C>T	ENSP00000507855.1:n.2221-3930C>T
ENST00000684497.1:c.2186-10770C>T	ENSP00000507057.1:n.2186-10770C>T
ENST00000382292.9:c.10462C>T MANE Select	ENSP00000371729.3:p.Leu3488Phe
ENST00000423156.2:c.2186-3930C>T	ENSP00000390925.2:n.2186-3930C>T
ENST00000455470.6:c.2432-3930C>T	ENSP00000406565.2:n.2432-3930C>T
ENST00000382292.7:c.10462C>T	ENSP00000371729.3:p.Leu3488Phe
ENST00000382298.7:c.10462C>T	ENSP00000371735.3:p.Leu3488Phe
ENST00000402364.1:c.8212C>T	ENSP00000385844.1:p.Leu2738Phe
ENST00000423156.1:c.1058-3930C>T	ENSP00000390925.1:n.1058-3930C>T
ENST00000455470.5:c.2130-3930C>T
NM_001278055.1:c.10021C>T	NP_001264984.1:p.Leu3341Phe
NM_014363.5:c.10462C>T	NP_055178.3:p.Leu3488Phe
XM_005266338.1:c.10489C>T	XP_005266395.1:p.Leu3497Phe
XM_011535038.1:c.10513C>T	XP_011533340.1:p.Leu3505Phe
XM_011535039.1:c.10480C>T	XP_011533341.1:p.Leu3494Phe
XM_005266338.2:c.10489C>T	XP_005266395.1:p.Leu3497Phe
XM_011535039.2:c.10480C>T	XP_011533341.1:p.Leu3494Phe
XM_017020539.1:c.10453C>T	XP_016876028.1:p.Leu3485Phe
XM_024449337.1:c.10489C>T	XP_024305105.1:p.Leu3497Phe
NM_014363.6:c.10462C>T MANE Select	NP_055178.3:p.Leu3488Phe
NM_001278055.2:c.10021C>T	NP_001264984.1:p.Leu3341Phe