Canonical Allele Identifier: CA387523835

Gene: SACS

Linked Data

• ClinVar Variation Id: 557070
• ClinVar RCV Id: RCV000673160
• dbSNP Id: rs1408290451
• MyVariant Identifiers: chr13:g.23911885G>A (hg19) ; chr13:g.23337746G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337746G>A , CM000675.2:g.23337746G>A	GRCh38
NC_000013.10:g.23911885G>A , CM000675.1:g.23911885G>A	GRCh37
NC_000013.9:g.22809885G>A	NCBI36
NG_012342.1:g.100957C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16039C>T	ENSP00000508399.1:n.2185+16039C>T
ENST00000682944.1:c.6157C>T	ENSP00000507173.1:p.Gln2053Ter
ENST00000683210.1:c.2185+16039C>T	ENSP00000506739.1:n.2185+16039C>T
ENST00000683270.1:c.6121C>T	ENSP00000507624.1:p.Gln2041Ter
ENST00000683367.1:c.2177-8262C>T	ENSP00000507780.1:n.2177-8262C>T
ENST00000683489.1:c.2291+3839C>T	ENSP00000508403.1:n.2291+3839C>T
ENST00000683680.1:c.2318+3839C>T	ENSP00000507223.1:n.2318+3839C>T
ENST00000684163.1:c.2204-8262C>T	ENSP00000508262.1:n.2204-8262C>T
ENST00000684196.1:n.4543-8262C>T
ENST00000684325.1:c.2185+16039C>T	ENSP00000508121.1:n.2185+16039C>T
ENST00000684385.1:c.2221-8262C>T	ENSP00000507855.1:n.2221-8262C>T
ENST00000684497.1:c.2186-15102C>T	ENSP00000507057.1:n.2186-15102C>T
ENST00000382292.9:c.6130C>T MANE Select	ENSP00000371729.3:p.Gln2044Ter
ENST00000423156.2:c.2186-8262C>T	ENSP00000390925.2:n.2186-8262C>T
ENST00000455470.6:c.2431+3699C>T	ENSP00000406565.2:n.2431+3699C>T
ENST00000382292.7:c.6130C>T	ENSP00000371729.3:p.Gln2044Ter
ENST00000382298.7:c.6130C>T	ENSP00000371735.3:p.Gln2044Ter
ENST00000402364.1:c.3880C>T	ENSP00000385844.1:p.Gln1294Ter
ENST00000423156.1:c.1058-8262C>T	ENSP00000390925.1:n.1058-8262C>T
ENST00000455470.5:c.2129+3699C>T
NM_001278055.1:c.5689C>T	NP_001264984.1:p.Gln1897Ter
NM_014363.5:c.6130C>T	NP_055178.3:p.Gln2044Ter
XM_005266338.1:c.6157C>T	XP_005266395.1:p.Gln2053Ter
XM_011535038.1:c.6181C>T	XP_011533340.1:p.Gln2061Ter
XM_011535039.1:c.6148C>T	XP_011533341.1:p.Gln2050Ter
XM_005266338.2:c.6157C>T	XP_005266395.1:p.Gln2053Ter
XM_011535039.2:c.6148C>T	XP_011533341.1:p.Gln2050Ter
XM_017020539.1:c.6121C>T	XP_016876028.1:p.Gln2041Ter
XM_024449337.1:c.6157C>T	XP_024305105.1:p.Gln2053Ter
NM_014363.6:c.6130C>T MANE Select	NP_055178.3:p.Gln2044Ter
NM_001278055.2:c.5689C>T	NP_001264984.1:p.Gln1897Ter