Canonical Allele Identifier: CA387513365
Gene: SACS HGNC NCBI

Linked Data

dbSNP Id: rs1426543789
gnomAD v2: 13-23908093-G-C
gnomAD v4: 13-23333954-G-C
MyVariant Identifiers: chr13:g.23908093G>C (hg19) chr13:g.23333954G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23333954G>C , CM000675.2:g.23333954G>C GRCh38
NC_000013.10:g.23908093G>C , CM000675.1:g.23908093G>C GRCh37
NC_000013.9:g.22806093G>C NCBI36
NG_012342.1:g.104749C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+19831C>G ENSP00000508399.1:n.2185+19831C>G
ENST00000682944.1:c.9949C>G ENSP00000507173.1:p.His3317Asp
ENST00000683210.1:c.2185+19831C>G ENSP00000506739.1:n.2185+19831C>G
ENST00000683270.1:c.6445+3468C>G ENSP00000507624.1:n.6445+3468C>G
ENST00000683367.1:c.2177-4470C>G ENSP00000507780.1:n.2177-4470C>G
ENST00000683489.1:c.2292-4002C>G ENSP00000508403.1:n.2292-4002C>G
ENST00000683680.1:c.2319-4002C>G ENSP00000507223.1:n.2319-4002C>G
ENST00000684163.1:c.2204-4470C>G ENSP00000508262.1:n.2204-4470C>G
ENST00000684196.1:n.4543-4470C>G
ENST00000684325.1:c.2186-12280C>G ENSP00000508121.1:n.2186-12280C>G
ENST00000684385.1:c.2221-4470C>G ENSP00000507855.1:n.2221-4470C>G
ENST00000684497.1:c.2186-11310C>G ENSP00000507057.1:n.2186-11310C>G
ENST00000382292.9:c.9922C>G MANE Select ENSP00000371729.3:p.His3308Asp
ENST00000423156.2:c.2186-4470C>G ENSP00000390925.2:n.2186-4470C>G
ENST00000455470.6:c.2432-4470C>G ENSP00000406565.2:n.2432-4470C>G
ENST00000382292.7:c.9922C>G ENSP00000371729.3:p.His3308Asp
ENST00000382298.7:c.9922C>G ENSP00000371735.3:p.His3308Asp
ENST00000402364.1:c.7672C>G ENSP00000385844.1:p.His2558Asp
ENST00000423156.1:c.1058-4470C>G ENSP00000390925.1:n.1058-4470C>G
ENST00000455470.5:c.2130-4470C>G
NM_001278055.1:c.9481C>G NP_001264984.1:p.His3161Asp
NM_014363.5:c.9922C>G NP_055178.3:p.His3308Asp
XM_005266338.1:c.9949C>G XP_005266395.1:p.His3317Asp
XM_011535038.1:c.9973C>G XP_011533340.1:p.His3325Asp
XM_011535039.1:c.9940C>G XP_011533341.1:p.His3314Asp
XM_005266338.2:c.9949C>G XP_005266395.1:p.His3317Asp
XM_011535039.2:c.9940C>G XP_011533341.1:p.His3314Asp
XM_017020539.1:c.9913C>G XP_016876028.1:p.His3305Asp
XM_024449337.1:c.9949C>G XP_024305105.1:p.His3317Asp
NM_014363.6:c.9922C>G MANE Select NP_055178.3:p.His3308Asp
NM_001278055.2:c.9481C>G NP_001264984.1:p.His3161Asp
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