Canonical Allele Identifier: CA387517583

Gene: SACS

Linked Data

• dbSNP Id: rs1478708979
• gnomAD v2: 13-23910004-C-T
• gnomAD v4: 13-23335865-C-T
• MyVariant Identifiers: chr13:g.23910004C>T (hg19) ; chr13:g.23335865C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23335865C>T , CM000675.2:g.23335865C>T	GRCh38
NC_000013.10:g.23910004C>T , CM000675.1:g.23910004C>T	GRCh37
NC_000013.9:g.22808004C>T	NCBI36
NG_012342.1:g.102838G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+17920G>A	ENSP00000508399.1:n.2185+17920G>A
ENST00000682944.1:c.8038G>A	ENSP00000507173.1:p.Asp2680Asn
ENST00000683210.1:c.2185+17920G>A	ENSP00000506739.1:n.2185+17920G>A
ENST00000683270.1:c.6445+1557G>A	ENSP00000507624.1:n.6445+1557G>A
ENST00000683367.1:c.2177-6381G>A	ENSP00000507780.1:n.2177-6381G>A
ENST00000683489.1:c.2291+5720G>A	ENSP00000508403.1:n.2291+5720G>A
ENST00000683680.1:c.2318+5720G>A	ENSP00000507223.1:n.2318+5720G>A
ENST00000684163.1:c.2204-6381G>A	ENSP00000508262.1:n.2204-6381G>A
ENST00000684196.1:n.4543-6381G>A
ENST00000684325.1:c.2186-14191G>A	ENSP00000508121.1:n.2186-14191G>A
ENST00000684385.1:c.2221-6381G>A	ENSP00000507855.1:n.2221-6381G>A
ENST00000684497.1:c.2186-13221G>A	ENSP00000507057.1:n.2186-13221G>A
ENST00000382292.9:c.8011G>A MANE Select	ENSP00000371729.3:p.Asp2671Asn
ENST00000423156.2:c.2186-6381G>A	ENSP00000390925.2:n.2186-6381G>A
ENST00000455470.6:c.2431+5580G>A	ENSP00000406565.2:n.2431+5580G>A
ENST00000382292.7:c.8011G>A	ENSP00000371729.3:p.Asp2671Asn
ENST00000382298.7:c.8011G>A	ENSP00000371735.3:p.Asp2671Asn
ENST00000402364.1:c.5761G>A	ENSP00000385844.1:p.Asp1921Asn
ENST00000423156.1:c.1058-6381G>A	ENSP00000390925.1:n.1058-6381G>A
ENST00000455470.5:c.2129+5580G>A
NM_001278055.1:c.7570G>A	NP_001264984.1:p.Asp2524Asn
NM_014363.5:c.8011G>A	NP_055178.3:p.Asp2671Asn
XM_005266338.1:c.8038G>A	XP_005266395.1:p.Asp2680Asn
XM_011535038.1:c.8062G>A	XP_011533340.1:p.Asp2688Asn
XM_011535039.1:c.8029G>A	XP_011533341.1:p.Asp2677Asn
XM_005266338.2:c.8038G>A	XP_005266395.1:p.Asp2680Asn
XM_011535039.2:c.8029G>A	XP_011533341.1:p.Asp2677Asn
XM_017020539.1:c.8002G>A	XP_016876028.1:p.Asp2668Asn
XM_024449337.1:c.8038G>A	XP_024305105.1:p.Asp2680Asn
NM_014363.6:c.8011G>A MANE Select	NP_055178.3:p.Asp2671Asn
NM_001278055.2:c.7570G>A	NP_001264984.1:p.Asp2524Asn