Canonical Allele Identifier: CA387527269

Gene: SACS

Linked Data

• dbSNP Id: rs1456472271
• gnomAD v3: 13-23339022-G-T
• gnomAD v4: 13-23339022-G-T
• MyVariant Identifiers: chr13:g.23913161G>T (hg19) ; chr13:g.23339022G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23339022G>T , CM000675.2:g.23339022G>T	GRCh38
NC_000013.10:g.23913161G>T , CM000675.1:g.23913161G>T	GRCh37
NC_000013.9:g.22811161G>T	NCBI36
NG_012342.1:g.99681C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+14763C>A	ENSP00000508399.1:n.2185+14763C>A
ENST00000682944.1:c.4881C>A	ENSP00000507173.1:p.Phe1627Leu
ENST00000683210.1:c.2185+14763C>A	ENSP00000506739.1:n.2185+14763C>A
ENST00000683270.1:c.4845C>A	ENSP00000507624.1:p.Phe1615Leu
ENST00000683367.1:c.2177-9538C>A	ENSP00000507780.1:n.2177-9538C>A
ENST00000683489.1:c.2291+2563C>A	ENSP00000508403.1:n.2291+2563C>A
ENST00000683680.1:c.2318+2563C>A	ENSP00000507223.1:n.2318+2563C>A
ENST00000684163.1:c.2203+7789C>A	ENSP00000508262.1:n.2203+7789C>A
ENST00000684196.1:n.4543-9538C>A
ENST00000684325.1:c.2185+14763C>A	ENSP00000508121.1:n.2185+14763C>A
ENST00000684385.1:c.2220+7789C>A	ENSP00000507855.1:n.2220+7789C>A
ENST00000684497.1:c.2185+14763C>A	ENSP00000507057.1:n.2185+14763C>A
ENST00000382292.9:c.4854C>A MANE Select	ENSP00000371729.3:p.Phe1618Leu
ENST00000423156.2:c.2186-9538C>A	ENSP00000390925.2:n.2186-9538C>A
ENST00000455470.6:c.2431+2423C>A	ENSP00000406565.2:n.2431+2423C>A
ENST00000382292.7:c.4854C>A	ENSP00000371729.3:p.Phe1618Leu
ENST00000382298.7:c.4854C>A	ENSP00000371735.3:p.Phe1618Leu
ENST00000402364.1:c.2604C>A	ENSP00000385844.1:p.Phe868Leu
ENST00000423156.1:c.1058-9538C>A	ENSP00000390925.1:n.1058-9538C>A
ENST00000455470.5:c.2129+2423C>A
NM_001278055.1:c.4413C>A	NP_001264984.1:p.Phe1471Leu
NM_014363.5:c.4854C>A	NP_055178.3:p.Phe1618Leu
XM_005266338.1:c.4881C>A	XP_005266395.1:p.Phe1627Leu
XM_011535038.1:c.4905C>A	XP_011533340.1:p.Phe1635Leu
XM_011535039.1:c.4872C>A	XP_011533341.1:p.Phe1624Leu
XM_005266338.2:c.4881C>A	XP_005266395.1:p.Phe1627Leu
XM_011535039.2:c.4872C>A	XP_011533341.1:p.Phe1624Leu
XM_017020539.1:c.4845C>A	XP_016876028.1:p.Phe1615Leu
XM_024449337.1:c.4881C>A	XP_024305105.1:p.Phe1627Leu
NM_014363.6:c.4854C>A MANE Select	NP_055178.3:p.Phe1618Leu
NM_001278055.2:c.4413C>A	NP_001264984.1:p.Phe1471Leu