Canonical Allele Identifier: CA6909932

Gene: SACS

Linked Data

• ClinVar Variation Id: 938190
• ClinVar RCV Id: RCV001207368 ; RCV001833823
• dbSNP Id: rs375722463
• ExAC: 13:23904321 G / T
• gnomAD v2: 13-23904321-G-T
• gnomAD v3: 13-23330182-G-T
• gnomAD v4: 13-23330182-G-T
• COSMIC: COSM2265947 ; COSM2265948
• MyVariant Identifiers: chr13:g.23904321G>T (hg19) ; chr13:g.23330182G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330182G>T , CM000675.2:g.23330182G>T	GRCh38
NC_000013.10:g.23904321G>T , CM000675.1:g.23904321G>T	GRCh37
NC_000013.9:g.22802321G>T	NCBI36
NG_012342.1:g.108521C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18067C>A	ENSP00000508399.1:n.2186-18067C>A
ENST00000682944.1:c.13721C>A	ENSP00000507173.1:p.Ala4574Asp
ENST00000683210.1:c.2185+23603C>A	ENSP00000506739.1:n.2185+23603C>A
ENST00000683270.1:c.6446-698C>A	ENSP00000507624.1:n.6446-698C>A
ENST00000683367.1:c.2177-698C>A	ENSP00000507780.1:n.2177-698C>A
ENST00000683489.1:c.2292-230C>A	ENSP00000508403.1:n.2292-230C>A
ENST00000683680.1:c.2319-230C>A	ENSP00000507223.1:n.2319-230C>A
ENST00000684163.1:c.2204-698C>A	ENSP00000508262.1:n.2204-698C>A
ENST00000684196.1:n.4543-698C>A
ENST00000684325.1:c.2186-8508C>A	ENSP00000508121.1:n.2186-8508C>A
ENST00000684385.1:c.2221-698C>A	ENSP00000507855.1:n.2221-698C>A
ENST00000684497.1:c.2186-7538C>A	ENSP00000507057.1:n.2186-7538C>A
ENST00000382292.9:c.13694C>A MANE Select	ENSP00000371729.3:p.Ala4565Asp
ENST00000423156.2:c.2186-698C>A	ENSP00000390925.2:n.2186-698C>A
ENST00000455470.6:c.2432-698C>A	ENSP00000406565.2:n.2432-698C>A
ENST00000382292.7:c.13694C>A	ENSP00000371729.3:p.Ala4565Asp
ENST00000382298.7:c.13694C>A	ENSP00000371735.3:p.Ala4565Asp
ENST00000402364.1:c.11444C>A	ENSP00000385844.1:p.Ala3815Asp
ENST00000423156.1:c.1058-698C>A	ENSP00000390925.1:n.1058-698C>A
ENST00000455470.5:c.2130-698C>A
NM_001278055.1:c.13253C>A	NP_001264984.1:p.Ala4418Asp
NM_014363.5:c.13694C>A	NP_055178.3:p.Ala4565Asp
XM_005266338.1:c.13721C>A	XP_005266395.1:p.Ala4574Asp
XM_011535038.1:c.13745C>A	XP_011533340.1:p.Ala4582Asp
XM_011535039.1:c.13712C>A	XP_011533341.1:p.Ala4571Asp
XM_005266338.2:c.13721C>A	XP_005266395.1:p.Ala4574Asp
XM_011535039.2:c.13712C>A	XP_011533341.1:p.Ala4571Asp
XM_017020539.1:c.13685C>A	XP_016876028.1:p.Ala4562Asp
XM_024449337.1:c.13721C>A	XP_024305105.1:p.Ala4574Asp
NM_014363.6:c.13694C>A MANE Select	NP_055178.3:p.Ala4565Asp
NM_001278055.2:c.13253C>A	NP_001264984.1:p.Ala4418Asp