Canonical Allele Identifier: CA387528070

Gene: SACS

Linked Data

• gnomAD v4: 13-23339210-A-G
• MyVariant Identifiers: chr13:g.23913349A>G (hg19) ; chr13:g.23339210A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23339210A>G , CM000675.2:g.23339210A>G	GRCh38
NC_000013.10:g.23913349A>G , CM000675.1:g.23913349A>G	GRCh37
NC_000013.9:g.22811349A>G	NCBI36
NG_012342.1:g.99493T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+14575T>C	ENSP00000508399.1:n.2185+14575T>C
ENST00000682944.1:c.4693T>C	ENSP00000507173.1:p.Phe1565Leu
ENST00000683210.1:c.2185+14575T>C	ENSP00000506739.1:n.2185+14575T>C
ENST00000683270.1:c.4657T>C	ENSP00000507624.1:p.Phe1553Leu
ENST00000683367.1:c.2177-9726T>C	ENSP00000507780.1:n.2177-9726T>C
ENST00000683489.1:c.2291+2375T>C	ENSP00000508403.1:n.2291+2375T>C
ENST00000683680.1:c.2318+2375T>C	ENSP00000507223.1:n.2318+2375T>C
ENST00000684163.1:c.2203+7601T>C	ENSP00000508262.1:n.2203+7601T>C
ENST00000684196.1:n.4543-9726T>C
ENST00000684325.1:c.2185+14575T>C	ENSP00000508121.1:n.2185+14575T>C
ENST00000684385.1:c.2220+7601T>C	ENSP00000507855.1:n.2220+7601T>C
ENST00000684497.1:c.2185+14575T>C	ENSP00000507057.1:n.2185+14575T>C
ENST00000382292.9:c.4666T>C MANE Select	ENSP00000371729.3:p.Phe1556Leu
ENST00000423156.2:c.2186-9726T>C	ENSP00000390925.2:n.2186-9726T>C
ENST00000455470.6:c.2431+2235T>C	ENSP00000406565.2:n.2431+2235T>C
ENST00000382292.7:c.4666T>C	ENSP00000371729.3:p.Phe1556Leu
ENST00000382298.7:c.4666T>C	ENSP00000371735.3:p.Phe1556Leu
ENST00000402364.1:c.2416T>C	ENSP00000385844.1:p.Phe806Leu
ENST00000423156.1:c.1058-9726T>C	ENSP00000390925.1:n.1058-9726T>C
ENST00000455470.5:c.2129+2235T>C
NM_001278055.1:c.4225T>C	NP_001264984.1:p.Phe1409Leu
NM_014363.5:c.4666T>C	NP_055178.3:p.Phe1556Leu
XM_005266338.1:c.4693T>C	XP_005266395.1:p.Phe1565Leu
XM_011535038.1:c.4717T>C	XP_011533340.1:p.Phe1573Leu
XM_011535039.1:c.4684T>C	XP_011533341.1:p.Phe1562Leu
XM_005266338.2:c.4693T>C	XP_005266395.1:p.Phe1565Leu
XM_011535039.2:c.4684T>C	XP_011533341.1:p.Phe1562Leu
XM_017020539.1:c.4657T>C	XP_016876028.1:p.Phe1553Leu
XM_024449337.1:c.4693T>C	XP_024305105.1:p.Phe1565Leu
NM_014363.6:c.4666T>C MANE Select	NP_055178.3:p.Phe1556Leu
NM_001278055.2:c.4225T>C	NP_001264984.1:p.Phe1409Leu