Canonical Allele Identifier: CA387513374
Gene: SACS HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.23908098A>C (hg19) chr13:g.23333959A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23333959A>C , CM000675.2:g.23333959A>C GRCh38
NC_000013.10:g.23908098A>C , CM000675.1:g.23908098A>C GRCh37
NC_000013.9:g.22806098A>C NCBI36
NG_012342.1:g.104744T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+19826T>G ENSP00000508399.1:n.2185+19826T>G
ENST00000682944.1:c.9944T>G ENSP00000507173.1:p.Leu3315Arg
ENST00000683210.1:c.2185+19826T>G ENSP00000506739.1:n.2185+19826T>G
ENST00000683270.1:c.6445+3463T>G ENSP00000507624.1:n.6445+3463T>G
ENST00000683367.1:c.2177-4475T>G ENSP00000507780.1:n.2177-4475T>G
ENST00000683489.1:c.2292-4007T>G ENSP00000508403.1:n.2292-4007T>G
ENST00000683680.1:c.2319-4007T>G ENSP00000507223.1:n.2319-4007T>G
ENST00000684163.1:c.2204-4475T>G ENSP00000508262.1:n.2204-4475T>G
ENST00000684196.1:n.4543-4475T>G
ENST00000684325.1:c.2186-12285T>G ENSP00000508121.1:n.2186-12285T>G
ENST00000684385.1:c.2221-4475T>G ENSP00000507855.1:n.2221-4475T>G
ENST00000684497.1:c.2186-11315T>G ENSP00000507057.1:n.2186-11315T>G
ENST00000382292.9:c.9917T>G MANE Select ENSP00000371729.3:p.Leu3306Arg
ENST00000423156.2:c.2186-4475T>G ENSP00000390925.2:n.2186-4475T>G
ENST00000455470.6:c.2432-4475T>G ENSP00000406565.2:n.2432-4475T>G
ENST00000382292.7:c.9917T>G ENSP00000371729.3:p.Leu3306Arg
ENST00000382298.7:c.9917T>G ENSP00000371735.3:p.Leu3306Arg
ENST00000402364.1:c.7667T>G ENSP00000385844.1:p.Leu2556Arg
ENST00000423156.1:c.1058-4475T>G ENSP00000390925.1:n.1058-4475T>G
ENST00000455470.5:c.2130-4475T>G
NM_001278055.1:c.9476T>G NP_001264984.1:p.Leu3159Arg
NM_014363.5:c.9917T>G NP_055178.3:p.Leu3306Arg
XM_005266338.1:c.9944T>G XP_005266395.1:p.Leu3315Arg
XM_011535038.1:c.9968T>G XP_011533340.1:p.Leu3323Arg
XM_011535039.1:c.9935T>G XP_011533341.1:p.Leu3312Arg
XM_005266338.2:c.9944T>G XP_005266395.1:p.Leu3315Arg
XM_011535039.2:c.9935T>G XP_011533341.1:p.Leu3312Arg
XM_017020539.1:c.9908T>G XP_016876028.1:p.Leu3303Arg
XM_024449337.1:c.9944T>G XP_024305105.1:p.Leu3315Arg
NM_014363.6:c.9917T>G MANE Select NP_055178.3:p.Leu3306Arg
NM_001278055.2:c.9476T>G NP_001264984.1:p.Leu3159Arg
Search 100 bp 5'
Search 100 bp 3'