Canonical Allele Identifier: CA246647662

Gene: SACS

Linked Data

• dbSNP Id: rs948132710
• gnomAD v3: 13-23330281-T-C
• gnomAD v4: 13-23330281-T-C
• MyVariant Identifiers: chr13:g.23904420T>C (hg19) ; chr13:g.23330281T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330281T>C , CM000675.2:g.23330281T>C	GRCh38
NC_000013.10:g.23904420T>C , CM000675.1:g.23904420T>C	GRCh37
NC_000013.9:g.22802420T>C	NCBI36
NG_012342.1:g.108422A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18166A>G	ENSP00000508399.1:n.2186-18166A>G
ENST00000682944.1:c.13622A>G	ENSP00000507173.1:p.Asp4541Gly
ENST00000683210.1:c.2185+23504A>G	ENSP00000506739.1:n.2185+23504A>G
ENST00000683270.1:c.6446-797A>G	ENSP00000507624.1:n.6446-797A>G
ENST00000683367.1:c.2177-797A>G	ENSP00000507780.1:n.2177-797A>G
ENST00000683489.1:c.2292-329A>G	ENSP00000508403.1:n.2292-329A>G
ENST00000683680.1:c.2319-329A>G	ENSP00000507223.1:n.2319-329A>G
ENST00000684163.1:c.2204-797A>G	ENSP00000508262.1:n.2204-797A>G
ENST00000684196.1:n.4543-797A>G
ENST00000684325.1:c.2186-8607A>G	ENSP00000508121.1:n.2186-8607A>G
ENST00000684385.1:c.2221-797A>G	ENSP00000507855.1:n.2221-797A>G
ENST00000684497.1:c.2186-7637A>G	ENSP00000507057.1:n.2186-7637A>G
ENST00000382292.9:c.13595A>G MANE Select	ENSP00000371729.3:p.Asp4532Gly
ENST00000423156.2:c.2186-797A>G	ENSP00000390925.2:n.2186-797A>G
ENST00000455470.6:c.2432-797A>G	ENSP00000406565.2:n.2432-797A>G
ENST00000382292.7:c.13595A>G	ENSP00000371729.3:p.Asp4532Gly
ENST00000382298.7:c.13595A>G	ENSP00000371735.3:p.Asp4532Gly
ENST00000402364.1:c.11345A>G	ENSP00000385844.1:p.Asp3782Gly
ENST00000423156.1:c.1058-797A>G	ENSP00000390925.1:n.1058-797A>G
ENST00000455470.5:c.2130-797A>G
NM_001278055.1:c.13154A>G	NP_001264984.1:p.Asp4385Gly
NM_014363.5:c.13595A>G	NP_055178.3:p.Asp4532Gly
XM_005266338.1:c.13622A>G	XP_005266395.1:p.Asp4541Gly
XM_011535038.1:c.13646A>G	XP_011533340.1:p.Asp4549Gly
XM_011535039.1:c.13613A>G	XP_011533341.1:p.Asp4538Gly
XM_005266338.2:c.13622A>G	XP_005266395.1:p.Asp4541Gly
XM_011535039.2:c.13613A>G	XP_011533341.1:p.Asp4538Gly
XM_017020539.1:c.13586A>G	XP_016876028.1:p.Asp4529Gly
XM_024449337.1:c.13622A>G	XP_024305105.1:p.Asp4541Gly
NM_014363.6:c.13595A>G MANE Select	NP_055178.3:p.Asp4532Gly
NM_001278055.2:c.13154A>G	NP_001264984.1:p.Asp4385Gly