Canonical Allele Identifier: CA387539103

Gene: SACS

Linked Data

• ClinVar Variation Id: 851981
• ClinVar RCV Id: RCV001056499
• dbSNP Id: rs1869215579
• gnomAD v4: 13-23341472-G-A
• MyVariant Identifiers: chr13:g.23915611G>A (hg19) ; chr13:g.23341472G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23341472G>A , CM000675.2:g.23341472G>A	GRCh38
NC_000013.10:g.23915611G>A , CM000675.1:g.23915611G>A	GRCh37
NC_000013.9:g.22813611G>A	NCBI36
NG_012342.1:g.97231C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+12313C>T	ENSP00000508399.1:n.2185+12313C>T
ENST00000682944.1:c.2431C>T	ENSP00000507173.1:p.Leu811Phe
ENST00000683210.1:c.2185+12313C>T	ENSP00000506739.1:n.2185+12313C>T
ENST00000683270.1:c.2395C>T	ENSP00000507624.1:p.Leu799Phe
ENST00000683367.1:c.2177-11988C>T	ENSP00000507780.1:n.2177-11988C>T
ENST00000683489.1:c.2291+113C>T	ENSP00000508403.1:n.2291+113C>T
ENST00000683680.1:c.2318+113C>T	ENSP00000507223.1:n.2318+113C>T
ENST00000684163.1:c.2203+5339C>T	ENSP00000508262.1:n.2203+5339C>T
ENST00000684196.1:n.4543-11988C>T
ENST00000684325.1:c.2185+12313C>T	ENSP00000508121.1:n.2185+12313C>T
ENST00000684385.1:c.2220+5339C>T	ENSP00000507855.1:n.2220+5339C>T
ENST00000684497.1:c.2185+12313C>T	ENSP00000507057.1:n.2185+12313C>T
ENST00000382292.9:c.2404C>T MANE Select	ENSP00000371729.3:p.Leu802Phe
ENST00000423156.2:c.2186-11988C>T	ENSP00000390925.2:n.2186-11988C>T
ENST00000455470.6:c.2404C>T	ENSP00000406565.2:p.Leu802Phe
ENST00000382292.7:c.2404C>T	ENSP00000371729.3:p.Leu802Phe
ENST00000382298.7:c.2404C>T	ENSP00000371735.3:p.Leu802Phe
ENST00000402364.1:c.154C>T	ENSP00000385844.1:p.Leu52Phe
ENST00000423156.1:c.1058-11988C>T	ENSP00000390925.1:n.1058-11988C>T
ENST00000455470.5:c.2102C>T
NM_001278055.1:c.1963C>T	NP_001264984.1:p.Leu655Phe
NM_014363.5:c.2404C>T	NP_055178.3:p.Leu802Phe
XM_005266338.1:c.2431C>T	XP_005266395.1:p.Leu811Phe
XM_011535038.1:c.2455C>T	XP_011533340.1:p.Leu819Phe
XM_011535039.1:c.2422C>T	XP_011533341.1:p.Leu808Phe
XM_005266338.2:c.2431C>T	XP_005266395.1:p.Leu811Phe
XM_011535039.2:c.2422C>T	XP_011533341.1:p.Leu808Phe
XM_017020539.1:c.2395C>T	XP_016876028.1:p.Leu799Phe
XM_024449337.1:c.2431C>T	XP_024305105.1:p.Leu811Phe
NM_014363.6:c.2404C>T MANE Select	NP_055178.3:p.Leu802Phe
NM_001278055.2:c.1963C>T	NP_001264984.1:p.Leu655Phe