Canonical Allele Identifier: CA387524079

Gene: SACS

Linked Data

• ClinVar Variation Id: 1978542
• ClinVar RCV Id: RCV002741867
• gnomAD v4: 13-23337857-C-G
• MyVariant Identifiers: chr13:g.23911996C>G (hg19) ; chr13:g.23337857C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337857C>G , CM000675.2:g.23337857C>G	GRCh38
NC_000013.10:g.23911996C>G , CM000675.1:g.23911996C>G	GRCh37
NC_000013.9:g.22809996C>G	NCBI36
NG_012342.1:g.100846G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15928G>C	ENSP00000508399.1:n.2185+15928G>C
ENST00000682944.1:c.6046G>C	ENSP00000507173.1:p.Ala2016Pro
ENST00000683210.1:c.2185+15928G>C	ENSP00000506739.1:n.2185+15928G>C
ENST00000683270.1:c.6010G>C	ENSP00000507624.1:p.Ala2004Pro
ENST00000683367.1:c.2177-8373G>C	ENSP00000507780.1:n.2177-8373G>C
ENST00000683489.1:c.2291+3728G>C	ENSP00000508403.1:n.2291+3728G>C
ENST00000683680.1:c.2318+3728G>C	ENSP00000507223.1:n.2318+3728G>C
ENST00000684163.1:c.2204-8373G>C	ENSP00000508262.1:n.2204-8373G>C
ENST00000684196.1:n.4543-8373G>C
ENST00000684325.1:c.2185+15928G>C	ENSP00000508121.1:n.2185+15928G>C
ENST00000684385.1:c.2221-8373G>C	ENSP00000507855.1:n.2221-8373G>C
ENST00000684497.1:c.2186-15213G>C	ENSP00000507057.1:n.2186-15213G>C
ENST00000382292.9:c.6019G>C MANE Select	ENSP00000371729.3:p.Ala2007Pro
ENST00000423156.2:c.2186-8373G>C	ENSP00000390925.2:n.2186-8373G>C
ENST00000455470.6:c.2431+3588G>C	ENSP00000406565.2:n.2431+3588G>C
ENST00000382292.7:c.6019G>C	ENSP00000371729.3:p.Ala2007Pro
ENST00000382298.7:c.6019G>C	ENSP00000371735.3:p.Ala2007Pro
ENST00000402364.1:c.3769G>C	ENSP00000385844.1:p.Ala1257Pro
ENST00000423156.1:c.1058-8373G>C	ENSP00000390925.1:n.1058-8373G>C
ENST00000455470.5:c.2129+3588G>C
NM_001278055.1:c.5578G>C	NP_001264984.1:p.Ala1860Pro
NM_014363.5:c.6019G>C	NP_055178.3:p.Ala2007Pro
XM_005266338.1:c.6046G>C	XP_005266395.1:p.Ala2016Pro
XM_011535038.1:c.6070G>C	XP_011533340.1:p.Ala2024Pro
XM_011535039.1:c.6037G>C	XP_011533341.1:p.Ala2013Pro
XM_005266338.2:c.6046G>C	XP_005266395.1:p.Ala2016Pro
XM_011535039.2:c.6037G>C	XP_011533341.1:p.Ala2013Pro
XM_017020539.1:c.6010G>C	XP_016876028.1:p.Ala2004Pro
XM_024449337.1:c.6046G>C	XP_024305105.1:p.Ala2016Pro
NM_014363.6:c.6019G>C MANE Select	NP_055178.3:p.Ala2007Pro
NM_001278055.2:c.5578G>C	NP_001264984.1:p.Ala1860Pro