Canonical Allele Identifier: CA246657627

Gene: SACS

Linked Data

• dbSNP Id: rs1032435635
• gnomAD v2: 13-23911137-A-G
• gnomAD v3: 13-23336998-A-G
• gnomAD v4: 13-23336998-A-G
• MyVariant Identifiers: chr13:g.23911137A>G (hg19) ; chr13:g.23336998A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336998A>G , CM000675.2:g.23336998A>G	GRCh38
NC_000013.10:g.23911137A>G , CM000675.1:g.23911137A>G	GRCh37
NC_000013.9:g.22809137A>G	NCBI36
NG_012342.1:g.101705T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+16787T>C	ENSP00000508399.1:n.2185+16787T>C
ENST00000682944.1:c.6905T>C	ENSP00000507173.1:p.Val2302Ala
ENST00000683210.1:c.2185+16787T>C	ENSP00000506739.1:n.2185+16787T>C
ENST00000683270.1:c.6445+424T>C	ENSP00000507624.1:n.6445+424T>C
ENST00000683367.1:c.2177-7514T>C	ENSP00000507780.1:n.2177-7514T>C
ENST00000683489.1:c.2291+4587T>C	ENSP00000508403.1:n.2291+4587T>C
ENST00000683680.1:c.2318+4587T>C	ENSP00000507223.1:n.2318+4587T>C
ENST00000684163.1:c.2204-7514T>C	ENSP00000508262.1:n.2204-7514T>C
ENST00000684196.1:n.4543-7514T>C
ENST00000684325.1:c.2186-15324T>C	ENSP00000508121.1:n.2186-15324T>C
ENST00000684385.1:c.2221-7514T>C	ENSP00000507855.1:n.2221-7514T>C
ENST00000684497.1:c.2186-14354T>C	ENSP00000507057.1:n.2186-14354T>C
ENST00000382292.9:c.6878T>C MANE Select	ENSP00000371729.3:p.Val2293Ala
ENST00000423156.2:c.2186-7514T>C	ENSP00000390925.2:n.2186-7514T>C
ENST00000455470.6:c.2431+4447T>C	ENSP00000406565.2:n.2431+4447T>C
ENST00000382292.7:c.6878T>C	ENSP00000371729.3:p.Val2293Ala
ENST00000382298.7:c.6878T>C	ENSP00000371735.3:p.Val2293Ala
ENST00000402364.1:c.4628T>C	ENSP00000385844.1:p.Val1543Ala
ENST00000423156.1:c.1058-7514T>C	ENSP00000390925.1:n.1058-7514T>C
ENST00000455470.5:c.2129+4447T>C
NM_001278055.1:c.6437T>C	NP_001264984.1:p.Val2146Ala
NM_014363.5:c.6878T>C	NP_055178.3:p.Val2293Ala
XM_005266338.1:c.6905T>C	XP_005266395.1:p.Val2302Ala
XM_011535038.1:c.6929T>C	XP_011533340.1:p.Val2310Ala
XM_011535039.1:c.6896T>C	XP_011533341.1:p.Val2299Ala
XM_005266338.2:c.6905T>C	XP_005266395.1:p.Val2302Ala
XM_011535039.2:c.6896T>C	XP_011533341.1:p.Val2299Ala
XM_017020539.1:c.6869T>C	XP_016876028.1:p.Val2290Ala
XM_024449337.1:c.6905T>C	XP_024305105.1:p.Val2302Ala
NM_014363.6:c.6878T>C MANE Select	NP_055178.3:p.Val2293Ala
NM_001278055.2:c.6437T>C	NP_001264984.1:p.Val2146Ala