Canonical Allele Identifier: CA387504739

Gene: SACS

Linked Data

• ClinVar Variation Id: 2913932
• ClinVar RCV Id: RCV003751473
• dbSNP Id: rs1434209787
• gnomAD v2: 13-23904343-T-C
• gnomAD v4: 13-23330204-T-C
• MyVariant Identifiers: chr13:g.23904343T>C (hg19) ; chr13:g.23330204T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330204T>C , CM000675.2:g.23330204T>C	GRCh38
NC_000013.10:g.23904343T>C , CM000675.1:g.23904343T>C	GRCh37
NC_000013.9:g.22802343T>C	NCBI36
NG_012342.1:g.108499A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18089A>G	ENSP00000508399.1:n.2186-18089A>G
ENST00000682944.1:c.13699A>G	ENSP00000507173.1:p.Met4567Val
ENST00000683210.1:c.2185+23581A>G	ENSP00000506739.1:n.2185+23581A>G
ENST00000683270.1:c.6446-720A>G	ENSP00000507624.1:n.6446-720A>G
ENST00000683367.1:c.2177-720A>G	ENSP00000507780.1:n.2177-720A>G
ENST00000683489.1:c.2292-252A>G	ENSP00000508403.1:n.2292-252A>G
ENST00000683680.1:c.2319-252A>G	ENSP00000507223.1:n.2319-252A>G
ENST00000684163.1:c.2204-720A>G	ENSP00000508262.1:n.2204-720A>G
ENST00000684196.1:n.4543-720A>G
ENST00000684325.1:c.2186-8530A>G	ENSP00000508121.1:n.2186-8530A>G
ENST00000684385.1:c.2221-720A>G	ENSP00000507855.1:n.2221-720A>G
ENST00000684497.1:c.2186-7560A>G	ENSP00000507057.1:n.2186-7560A>G
ENST00000382292.9:c.13672A>G MANE Select	ENSP00000371729.3:p.Met4558Val
ENST00000423156.2:c.2186-720A>G	ENSP00000390925.2:n.2186-720A>G
ENST00000455470.6:c.2432-720A>G	ENSP00000406565.2:n.2432-720A>G
ENST00000382292.7:c.13672A>G	ENSP00000371729.3:p.Met4558Val
ENST00000382298.7:c.13672A>G	ENSP00000371735.3:p.Met4558Val
ENST00000402364.1:c.11422A>G	ENSP00000385844.1:p.Met3808Val
ENST00000423156.1:c.1058-720A>G	ENSP00000390925.1:n.1058-720A>G
ENST00000455470.5:c.2130-720A>G
NM_001278055.1:c.13231A>G	NP_001264984.1:p.Met4411Val
NM_014363.5:c.13672A>G	NP_055178.3:p.Met4558Val
XM_005266338.1:c.13699A>G	XP_005266395.1:p.Met4567Val
XM_011535038.1:c.13723A>G	XP_011533340.1:p.Met4575Val
XM_011535039.1:c.13690A>G	XP_011533341.1:p.Met4564Val
XM_005266338.2:c.13699A>G	XP_005266395.1:p.Met4567Val
XM_011535039.2:c.13690A>G	XP_011533341.1:p.Met4564Val
XM_017020539.1:c.13663A>G	XP_016876028.1:p.Met4555Val
XM_024449337.1:c.13699A>G	XP_024305105.1:p.Met4567Val
NM_014363.6:c.13672A>G MANE Select	NP_055178.3:p.Met4558Val
NM_001278055.2:c.13231A>G	NP_001264984.1:p.Met4411Val