Canonical Allele Identifier: CA387518919

Gene: SACS

Linked Data

• gnomAD v4: 13-23336383-G-A
• MyVariant Identifiers: chr13:g.23910522G>A (hg19) ; chr13:g.23336383G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336383G>A , CM000675.2:g.23336383G>A	GRCh38
NC_000013.10:g.23910522G>A , CM000675.1:g.23910522G>A	GRCh37
NC_000013.9:g.22808522G>A	NCBI36
NG_012342.1:g.102320C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+17402C>T	ENSP00000508399.1:n.2185+17402C>T
ENST00000682944.1:c.7520C>T	ENSP00000507173.1:p.Ala2507Val
ENST00000683210.1:c.2185+17402C>T	ENSP00000506739.1:n.2185+17402C>T
ENST00000683270.1:c.6445+1039C>T	ENSP00000507624.1:n.6445+1039C>T
ENST00000683367.1:c.2177-6899C>T	ENSP00000507780.1:n.2177-6899C>T
ENST00000683489.1:c.2291+5202C>T	ENSP00000508403.1:n.2291+5202C>T
ENST00000683680.1:c.2318+5202C>T	ENSP00000507223.1:n.2318+5202C>T
ENST00000684163.1:c.2204-6899C>T	ENSP00000508262.1:n.2204-6899C>T
ENST00000684196.1:n.4543-6899C>T
ENST00000684325.1:c.2186-14709C>T	ENSP00000508121.1:n.2186-14709C>T
ENST00000684385.1:c.2221-6899C>T	ENSP00000507855.1:n.2221-6899C>T
ENST00000684497.1:c.2186-13739C>T	ENSP00000507057.1:n.2186-13739C>T
ENST00000382292.9:c.7493C>T MANE Select	ENSP00000371729.3:p.Ala2498Val
ENST00000423156.2:c.2186-6899C>T	ENSP00000390925.2:n.2186-6899C>T
ENST00000455470.6:c.2431+5062C>T	ENSP00000406565.2:n.2431+5062C>T
ENST00000382292.7:c.7493C>T	ENSP00000371729.3:p.Ala2498Val
ENST00000382298.7:c.7493C>T	ENSP00000371735.3:p.Ala2498Val
ENST00000402364.1:c.5243C>T	ENSP00000385844.1:p.Ala1748Val
ENST00000423156.1:c.1058-6899C>T	ENSP00000390925.1:n.1058-6899C>T
ENST00000455470.5:c.2129+5062C>T
NM_001278055.1:c.7052C>T	NP_001264984.1:p.Ala2351Val
NM_014363.5:c.7493C>T	NP_055178.3:p.Ala2498Val
XM_005266338.1:c.7520C>T	XP_005266395.1:p.Ala2507Val
XM_011535038.1:c.7544C>T	XP_011533340.1:p.Ala2515Val
XM_011535039.1:c.7511C>T	XP_011533341.1:p.Ala2504Val
XM_005266338.2:c.7520C>T	XP_005266395.1:p.Ala2507Val
XM_011535039.2:c.7511C>T	XP_011533341.1:p.Ala2504Val
XM_017020539.1:c.7484C>T	XP_016876028.1:p.Ala2495Val
XM_024449337.1:c.7520C>T	XP_024305105.1:p.Ala2507Val
NM_014363.6:c.7493C>T MANE Select	NP_055178.3:p.Ala2498Val
NM_001278055.2:c.7052C>T	NP_001264984.1:p.Ala2351Val