Canonical Allele Identifier: CA387518759

Gene: SACS

Linked Data

• gnomAD v4: 13-23336311-A-T
• MyVariant Identifiers: chr13:g.23910450A>T (hg19) ; chr13:g.23336311A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336311A>T , CM000675.2:g.23336311A>T	GRCh38
NC_000013.10:g.23910450A>T , CM000675.1:g.23910450A>T	GRCh37
NC_000013.9:g.22808450A>T	NCBI36
NG_012342.1:g.102392T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+17474T>A	ENSP00000508399.1:n.2185+17474T>A
ENST00000682944.1:c.7592T>A	ENSP00000507173.1:p.Phe2531Tyr
ENST00000683210.1:c.2185+17474T>A	ENSP00000506739.1:n.2185+17474T>A
ENST00000683270.1:c.6445+1111T>A	ENSP00000507624.1:n.6445+1111T>A
ENST00000683367.1:c.2177-6827T>A	ENSP00000507780.1:n.2177-6827T>A
ENST00000683489.1:c.2291+5274T>A	ENSP00000508403.1:n.2291+5274T>A
ENST00000683680.1:c.2318+5274T>A	ENSP00000507223.1:n.2318+5274T>A
ENST00000684163.1:c.2204-6827T>A	ENSP00000508262.1:n.2204-6827T>A
ENST00000684196.1:n.4543-6827T>A
ENST00000684325.1:c.2186-14637T>A	ENSP00000508121.1:n.2186-14637T>A
ENST00000684385.1:c.2221-6827T>A	ENSP00000507855.1:n.2221-6827T>A
ENST00000684497.1:c.2186-13667T>A	ENSP00000507057.1:n.2186-13667T>A
ENST00000382292.9:c.7565T>A MANE Select	ENSP00000371729.3:p.Phe2522Tyr
ENST00000423156.2:c.2186-6827T>A	ENSP00000390925.2:n.2186-6827T>A
ENST00000455470.6:c.2431+5134T>A	ENSP00000406565.2:n.2431+5134T>A
ENST00000382292.7:c.7565T>A	ENSP00000371729.3:p.Phe2522Tyr
ENST00000382298.7:c.7565T>A	ENSP00000371735.3:p.Phe2522Tyr
ENST00000402364.1:c.5315T>A	ENSP00000385844.1:p.Phe1772Tyr
ENST00000423156.1:c.1058-6827T>A	ENSP00000390925.1:n.1058-6827T>A
ENST00000455470.5:c.2129+5134T>A
NM_001278055.1:c.7124T>A	NP_001264984.1:p.Phe2375Tyr
NM_014363.5:c.7565T>A	NP_055178.3:p.Phe2522Tyr
XM_005266338.1:c.7592T>A	XP_005266395.1:p.Phe2531Tyr
XM_011535038.1:c.7616T>A	XP_011533340.1:p.Phe2539Tyr
XM_011535039.1:c.7583T>A	XP_011533341.1:p.Phe2528Tyr
XM_005266338.2:c.7592T>A	XP_005266395.1:p.Phe2531Tyr
XM_011535039.2:c.7583T>A	XP_011533341.1:p.Phe2528Tyr
XM_017020539.1:c.7556T>A	XP_016876028.1:p.Phe2519Tyr
XM_024449337.1:c.7592T>A	XP_024305105.1:p.Phe2531Tyr
NM_014363.6:c.7565T>A MANE Select	NP_055178.3:p.Phe2522Tyr
NM_001278055.2:c.7124T>A	NP_001264984.1:p.Phe2375Tyr