Canonical Allele Identifier: CA6910618

Gene: SACS

Linked Data

• ClinVar Variation Id: 2727715
• ClinVar RCV Id: RCV003588197
• dbSNP Id: rs376433767
• ExAC: 13:23908539 A / G
• gnomAD v2: 13-23908539-A-G
• gnomAD v3: 13-23334400-A-G
• gnomAD v4: 13-23334400-A-G
• MyVariant Identifiers: chr13:g.23908539A>G (hg19) ; chr13:g.23334400A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334400A>G , CM000675.2:g.23334400A>G	GRCh38
NC_000013.10:g.23908539A>G , CM000675.1:g.23908539A>G	GRCh37
NC_000013.9:g.22806539A>G	NCBI36
NG_012342.1:g.104303T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19385T>C	ENSP00000508399.1:n.2185+19385T>C
ENST00000682944.1:c.9503T>C	ENSP00000507173.1:p.Leu3168Pro
ENST00000683210.1:c.2185+19385T>C	ENSP00000506739.1:n.2185+19385T>C
ENST00000683270.1:c.6445+3022T>C	ENSP00000507624.1:n.6445+3022T>C
ENST00000683367.1:c.2177-4916T>C	ENSP00000507780.1:n.2177-4916T>C
ENST00000683489.1:c.2292-4448T>C	ENSP00000508403.1:n.2292-4448T>C
ENST00000683680.1:c.2319-4448T>C	ENSP00000507223.1:n.2319-4448T>C
ENST00000684163.1:c.2204-4916T>C	ENSP00000508262.1:n.2204-4916T>C
ENST00000684196.1:n.4543-4916T>C
ENST00000684325.1:c.2186-12726T>C	ENSP00000508121.1:n.2186-12726T>C
ENST00000684385.1:c.2221-4916T>C	ENSP00000507855.1:n.2221-4916T>C
ENST00000684497.1:c.2186-11756T>C	ENSP00000507057.1:n.2186-11756T>C
ENST00000382292.9:c.9476T>C MANE Select	ENSP00000371729.3:p.Leu3159Pro
ENST00000423156.2:c.2186-4916T>C	ENSP00000390925.2:n.2186-4916T>C
ENST00000455470.6:c.2432-4916T>C	ENSP00000406565.2:n.2432-4916T>C
ENST00000382292.7:c.9476T>C	ENSP00000371729.3:p.Leu3159Pro
ENST00000382298.7:c.9476T>C	ENSP00000371735.3:p.Leu3159Pro
ENST00000402364.1:c.7226T>C	ENSP00000385844.1:p.Leu2409Pro
ENST00000423156.1:c.1058-4916T>C	ENSP00000390925.1:n.1058-4916T>C
ENST00000455470.5:c.2130-4916T>C
NM_001278055.1:c.9035T>C	NP_001264984.1:p.Leu3012Pro
NM_014363.5:c.9476T>C	NP_055178.3:p.Leu3159Pro
XM_005266338.1:c.9503T>C	XP_005266395.1:p.Leu3168Pro
XM_011535038.1:c.9527T>C	XP_011533340.1:p.Leu3176Pro
XM_011535039.1:c.9494T>C	XP_011533341.1:p.Leu3165Pro
XM_005266338.2:c.9503T>C	XP_005266395.1:p.Leu3168Pro
XM_011535039.2:c.9494T>C	XP_011533341.1:p.Leu3165Pro
XM_017020539.1:c.9467T>C	XP_016876028.1:p.Leu3156Pro
XM_024449337.1:c.9503T>C	XP_024305105.1:p.Leu3168Pro
NM_014363.6:c.9476T>C MANE Select	NP_055178.3:p.Leu3159Pro
NM_001278055.2:c.9035T>C	NP_001264984.1:p.Leu3012Pro