Canonical Allele Identifier: CA387514557

Gene: SACS

Linked Data

• ClinVar Variation Id: 2884713
• ClinVar RCV Id: RCV003750464
• dbSNP Id: rs1252856229
• gnomAD v2: 13-23908629-A-G
• gnomAD v3: 13-23334490-A-G
• gnomAD v4: 13-23334490-A-G
• MyVariant Identifiers: chr13:g.23908629A>G (hg19) ; chr13:g.23334490A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334490A>G , CM000675.2:g.23334490A>G	GRCh38
NC_000013.10:g.23908629A>G , CM000675.1:g.23908629A>G	GRCh37
NC_000013.9:g.22806629A>G	NCBI36
NG_012342.1:g.104213T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+19295T>C	ENSP00000508399.1:n.2185+19295T>C
ENST00000682944.1:c.9413T>C	ENSP00000507173.1:p.Phe3138Ser
ENST00000683210.1:c.2185+19295T>C	ENSP00000506739.1:n.2185+19295T>C
ENST00000683270.1:c.6445+2932T>C	ENSP00000507624.1:n.6445+2932T>C
ENST00000683367.1:c.2177-5006T>C	ENSP00000507780.1:n.2177-5006T>C
ENST00000683489.1:c.2292-4538T>C	ENSP00000508403.1:n.2292-4538T>C
ENST00000683680.1:c.2319-4538T>C	ENSP00000507223.1:n.2319-4538T>C
ENST00000684163.1:c.2204-5006T>C	ENSP00000508262.1:n.2204-5006T>C
ENST00000684196.1:n.4543-5006T>C
ENST00000684325.1:c.2186-12816T>C	ENSP00000508121.1:n.2186-12816T>C
ENST00000684385.1:c.2221-5006T>C	ENSP00000507855.1:n.2221-5006T>C
ENST00000684497.1:c.2186-11846T>C	ENSP00000507057.1:n.2186-11846T>C
ENST00000382292.9:c.9386T>C MANE Select	ENSP00000371729.3:p.Phe3129Ser
ENST00000423156.2:c.2186-5006T>C	ENSP00000390925.2:n.2186-5006T>C
ENST00000455470.6:c.2432-5006T>C	ENSP00000406565.2:n.2432-5006T>C
ENST00000382292.7:c.9386T>C	ENSP00000371729.3:p.Phe3129Ser
ENST00000382298.7:c.9386T>C	ENSP00000371735.3:p.Phe3129Ser
ENST00000402364.1:c.7136T>C	ENSP00000385844.1:p.Phe2379Ser
ENST00000423156.1:c.1058-5006T>C	ENSP00000390925.1:n.1058-5006T>C
ENST00000455470.5:c.2130-5006T>C
NM_001278055.1:c.8945T>C	NP_001264984.1:p.Phe2982Ser
NM_014363.5:c.9386T>C	NP_055178.3:p.Phe3129Ser
XM_005266338.1:c.9413T>C	XP_005266395.1:p.Phe3138Ser
XM_011535038.1:c.9437T>C	XP_011533340.1:p.Phe3146Ser
XM_011535039.1:c.9404T>C	XP_011533341.1:p.Phe3135Ser
XM_005266338.2:c.9413T>C	XP_005266395.1:p.Phe3138Ser
XM_011535039.2:c.9404T>C	XP_011533341.1:p.Phe3135Ser
XM_017020539.1:c.9377T>C	XP_016876028.1:p.Phe3126Ser
XM_024449337.1:c.9413T>C	XP_024305105.1:p.Phe3138Ser
NM_014363.6:c.9386T>C MANE Select	NP_055178.3:p.Phe3129Ser
NM_001278055.2:c.8945T>C	NP_001264984.1:p.Phe2982Ser