Canonical Allele Identifier: CA387519702

Gene: SACS

Linked Data

• ClinVar Variation Id: 1435423
• ClinVar RCV Id: RCV001972259
• dbSNP Id: rs2137602329
• gnomAD v4: 13-23336621-C-A
• MyVariant Identifiers: chr13:g.23910760C>A (hg19) ; chr13:g.23336621C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336621C>A , CM000675.2:g.23336621C>A	GRCh38
NC_000013.10:g.23910760C>A , CM000675.1:g.23910760C>A	GRCh37
NC_000013.9:g.22808760C>A	NCBI36
NG_012342.1:g.102082G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+17164G>T	ENSP00000508399.1:n.2185+17164G>T
ENST00000682944.1:c.7282G>T	ENSP00000507173.1:p.Glu2428Ter
ENST00000683210.1:c.2185+17164G>T	ENSP00000506739.1:n.2185+17164G>T
ENST00000683270.1:c.6445+801G>T	ENSP00000507624.1:n.6445+801G>T
ENST00000683367.1:c.2177-7137G>T	ENSP00000507780.1:n.2177-7137G>T
ENST00000683489.1:c.2291+4964G>T	ENSP00000508403.1:n.2291+4964G>T
ENST00000683680.1:c.2318+4964G>T	ENSP00000507223.1:n.2318+4964G>T
ENST00000684163.1:c.2204-7137G>T	ENSP00000508262.1:n.2204-7137G>T
ENST00000684196.1:n.4543-7137G>T
ENST00000684325.1:c.2186-14947G>T	ENSP00000508121.1:n.2186-14947G>T
ENST00000684385.1:c.2221-7137G>T	ENSP00000507855.1:n.2221-7137G>T
ENST00000684497.1:c.2186-13977G>T	ENSP00000507057.1:n.2186-13977G>T
ENST00000382292.9:c.7255G>T MANE Select	ENSP00000371729.3:p.Glu2419Ter
ENST00000423156.2:c.2186-7137G>T	ENSP00000390925.2:n.2186-7137G>T
ENST00000455470.6:c.2431+4824G>T	ENSP00000406565.2:n.2431+4824G>T
ENST00000382292.7:c.7255G>T	ENSP00000371729.3:p.Glu2419Ter
ENST00000382298.7:c.7255G>T	ENSP00000371735.3:p.Glu2419Ter
ENST00000402364.1:c.5005G>T	ENSP00000385844.1:p.Glu1669Ter
ENST00000423156.1:c.1058-7137G>T	ENSP00000390925.1:n.1058-7137G>T
ENST00000455470.5:c.2129+4824G>T
NM_001278055.1:c.6814G>T	NP_001264984.1:p.Glu2272Ter
NM_014363.5:c.7255G>T	NP_055178.3:p.Glu2419Ter
XM_005266338.1:c.7282G>T	XP_005266395.1:p.Glu2428Ter
XM_011535038.1:c.7306G>T	XP_011533340.1:p.Glu2436Ter
XM_011535039.1:c.7273G>T	XP_011533341.1:p.Glu2425Ter
XM_005266338.2:c.7282G>T	XP_005266395.1:p.Glu2428Ter
XM_011535039.2:c.7273G>T	XP_011533341.1:p.Glu2425Ter
XM_017020539.1:c.7246G>T	XP_016876028.1:p.Glu2416Ter
XM_024449337.1:c.7282G>T	XP_024305105.1:p.Glu2428Ter
NM_014363.6:c.7255G>T MANE Select	NP_055178.3:p.Glu2419Ter
NM_001278055.2:c.6814G>T	NP_001264984.1:p.Glu2272Ter