Canonical Allele Identifier: CA16041614
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 370900
ClinVar RCV Id: RCV000411855
dbSNP Id: rs1057516853
MyVariant Identifiers: chr13:g.23909148A>T (hg19) chr13:g.23335009A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23335009A>T , CM000675.2:g.23335009A>T GRCh38
NC_000013.10:g.23909148A>T , CM000675.1:g.23909148A>T GRCh37
NC_000013.9:g.22807148A>T NCBI36
NG_012342.1:g.103694T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+18776T>A ENSP00000508399.1:n.2185+18776T>A
ENST00000682944.1:c.8894T>A ENSP00000507173.1:p.Leu2965Ter
ENST00000683210.1:c.2185+18776T>A ENSP00000506739.1:n.2185+18776T>A
ENST00000683270.1:c.6445+2413T>A ENSP00000507624.1:n.6445+2413T>A
ENST00000683367.1:c.2177-5525T>A ENSP00000507780.1:n.2177-5525T>A
ENST00000683489.1:c.2292-5057T>A ENSP00000508403.1:n.2292-5057T>A
ENST00000683680.1:c.2319-5057T>A ENSP00000507223.1:n.2319-5057T>A
ENST00000684163.1:c.2204-5525T>A ENSP00000508262.1:n.2204-5525T>A
ENST00000684196.1:n.4543-5525T>A
ENST00000684325.1:c.2186-13335T>A ENSP00000508121.1:n.2186-13335T>A
ENST00000684385.1:c.2221-5525T>A ENSP00000507855.1:n.2221-5525T>A
ENST00000684497.1:c.2186-12365T>A ENSP00000507057.1:n.2186-12365T>A
ENST00000382292.9:c.8867T>A MANE Select ENSP00000371729.3:p.Leu2956Ter
ENST00000423156.2:c.2186-5525T>A ENSP00000390925.2:n.2186-5525T>A
ENST00000455470.6:c.2432-5525T>A ENSP00000406565.2:n.2432-5525T>A
ENST00000382292.7:c.8867T>A ENSP00000371729.3:p.Leu2956Ter
ENST00000382298.7:c.8867T>A ENSP00000371735.3:p.Leu2956Ter
ENST00000402364.1:c.6617T>A ENSP00000385844.1:p.Leu2206Ter
ENST00000423156.1:c.1058-5525T>A ENSP00000390925.1:n.1058-5525T>A
ENST00000455470.5:c.2130-5525T>A
NM_001278055.1:c.8426T>A NP_001264984.1:p.Leu2809Ter
NM_014363.5:c.8867T>A NP_055178.3:p.Leu2956Ter
XM_005266338.1:c.8894T>A XP_005266395.1:p.Leu2965Ter
XM_011535038.1:c.8918T>A XP_011533340.1:p.Leu2973Ter
XM_011535039.1:c.8885T>A XP_011533341.1:p.Leu2962Ter
XM_005266338.2:c.8894T>A XP_005266395.1:p.Leu2965Ter
XM_011535039.2:c.8885T>A XP_011533341.1:p.Leu2962Ter
XM_017020539.1:c.8858T>A XP_016876028.1:p.Leu2953Ter
XM_024449337.1:c.8894T>A XP_024305105.1:p.Leu2965Ter
NM_014363.6:c.8867T>A MANE Select NP_055178.3:p.Leu2956Ter
NM_001278055.2:c.8426T>A NP_001264984.1:p.Leu2809Ter
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