Canonical Allele Identifier: CA387504686

Gene: SACS

Linked Data

• dbSNP Id: rs2137547513
• gnomAD v3: 13-23330183-C-T
• gnomAD v4: 13-23330183-C-T
• MyVariant Identifiers: chr13:g.23904322C>T (hg19) ; chr13:g.23330183C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330183C>T , CM000675.2:g.23330183C>T	GRCh38
NC_000013.10:g.23904322C>T , CM000675.1:g.23904322C>T	GRCh37
NC_000013.9:g.22802322C>T	NCBI36
NG_012342.1:g.108520G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18068G>A	ENSP00000508399.1:n.2186-18068G>A
ENST00000682944.1:c.13720G>A	ENSP00000507173.1:p.Ala4574Thr
ENST00000683210.1:c.2185+23602G>A	ENSP00000506739.1:n.2185+23602G>A
ENST00000683270.1:c.6446-699G>A	ENSP00000507624.1:n.6446-699G>A
ENST00000683367.1:c.2177-699G>A	ENSP00000507780.1:n.2177-699G>A
ENST00000683489.1:c.2292-231G>A	ENSP00000508403.1:n.2292-231G>A
ENST00000683680.1:c.2319-231G>A	ENSP00000507223.1:n.2319-231G>A
ENST00000684163.1:c.2204-699G>A	ENSP00000508262.1:n.2204-699G>A
ENST00000684196.1:n.4543-699G>A
ENST00000684325.1:c.2186-8509G>A	ENSP00000508121.1:n.2186-8509G>A
ENST00000684385.1:c.2221-699G>A	ENSP00000507855.1:n.2221-699G>A
ENST00000684497.1:c.2186-7539G>A	ENSP00000507057.1:n.2186-7539G>A
ENST00000382292.9:c.13693G>A MANE Select	ENSP00000371729.3:p.Ala4565Thr
ENST00000423156.2:c.2186-699G>A	ENSP00000390925.2:n.2186-699G>A
ENST00000455470.6:c.2432-699G>A	ENSP00000406565.2:n.2432-699G>A
ENST00000382292.7:c.13693G>A	ENSP00000371729.3:p.Ala4565Thr
ENST00000382298.7:c.13693G>A	ENSP00000371735.3:p.Ala4565Thr
ENST00000402364.1:c.11443G>A	ENSP00000385844.1:p.Ala3815Thr
ENST00000423156.1:c.1058-699G>A	ENSP00000390925.1:n.1058-699G>A
ENST00000455470.5:c.2130-699G>A
NM_001278055.1:c.13252G>A	NP_001264984.1:p.Ala4418Thr
NM_014363.5:c.13693G>A	NP_055178.3:p.Ala4565Thr
XM_005266338.1:c.13720G>A	XP_005266395.1:p.Ala4574Thr
XM_011535038.1:c.13744G>A	XP_011533340.1:p.Ala4582Thr
XM_011535039.1:c.13711G>A	XP_011533341.1:p.Ala4571Thr
XM_005266338.2:c.13720G>A	XP_005266395.1:p.Ala4574Thr
XM_011535039.2:c.13711G>A	XP_011533341.1:p.Ala4571Thr
XM_017020539.1:c.13684G>A	XP_016876028.1:p.Ala4562Thr
XM_024449337.1:c.13720G>A	XP_024305105.1:p.Ala4574Thr
NM_014363.6:c.13693G>A MANE Select	NP_055178.3:p.Ala4565Thr
NM_001278055.2:c.13252G>A	NP_001264984.1:p.Ala4418Thr