Canonical Allele Identifier: CA387515533
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2504674
ClinVar RCV Id: RCV003234265
dbSNP Id: rs1447340874

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23334934A>G , CM000675.2:g.23334934A>G GRCh38
NC_000013.10:g.23909073A>G , CM000675.1:g.23909073A>G GRCh37
NC_000013.9:g.22807073A>G NCBI36
NG_012342.1:g.103769T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+18851T>C ENSP00000508399.1:n.2185+18851T>C
ENST00000682944.1:c.8969T>C ENSP00000507173.1:p.Leu2990Pro
ENST00000683210.1:c.2185+18851T>C ENSP00000506739.1:n.2185+18851T>C
ENST00000683270.1:c.6445+2488T>C ENSP00000507624.1:n.6445+2488T>C
ENST00000683367.1:c.2177-5450T>C ENSP00000507780.1:n.2177-5450T>C
ENST00000683489.1:c.2292-4982T>C ENSP00000508403.1:n.2292-4982T>C
ENST00000683680.1:c.2319-4982T>C ENSP00000507223.1:n.2319-4982T>C
ENST00000684163.1:c.2204-5450T>C ENSP00000508262.1:n.2204-5450T>C
ENST00000684196.1:n.4543-5450T>C
ENST00000684325.1:c.2186-13260T>C ENSP00000508121.1:n.2186-13260T>C
ENST00000684385.1:c.2221-5450T>C ENSP00000507855.1:n.2221-5450T>C
ENST00000684497.1:c.2186-12290T>C ENSP00000507057.1:n.2186-12290T>C
ENST00000382292.9:c.8942T>C MANE Select ENSP00000371729.3:p.Leu2981Pro
ENST00000423156.2:c.2186-5450T>C ENSP00000390925.2:n.2186-5450T>C
ENST00000455470.6:c.2432-5450T>C ENSP00000406565.2:n.2432-5450T>C
ENST00000382292.7:c.8942T>C ENSP00000371729.3:p.Leu2981Pro
ENST00000382298.7:c.8942T>C ENSP00000371735.3:p.Leu2981Pro
ENST00000402364.1:c.6692T>C ENSP00000385844.1:p.Leu2231Pro
ENST00000423156.1:c.1058-5450T>C ENSP00000390925.1:n.1058-5450T>C
ENST00000455470.5:c.2130-5450T>C
NM_001278055.1:c.8501T>C NP_001264984.1:p.Leu2834Pro
NM_014363.5:c.8942T>C NP_055178.3:p.Leu2981Pro
XM_005266338.1:c.8969T>C XP_005266395.1:p.Leu2990Pro
XM_011535038.1:c.8993T>C XP_011533340.1:p.Leu2998Pro
XM_011535039.1:c.8960T>C XP_011533341.1:p.Leu2987Pro
XM_005266338.2:c.8969T>C XP_005266395.1:p.Leu2990Pro
XM_011535039.2:c.8960T>C XP_011533341.1:p.Leu2987Pro
XM_017020539.1:c.8933T>C XP_016876028.1:p.Leu2978Pro
XM_024449337.1:c.8969T>C XP_024305105.1:p.Leu2990Pro
NM_014363.6:c.8942T>C MANE Select NP_055178.3:p.Leu2981Pro
NM_001278055.2:c.8501T>C NP_001264984.1:p.Leu2834Pro