Canonical Allele Identifier: CA483163598
Gene: SACS HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.23915069T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23340930T>C , CM000675.2:g.23340930T>C GRCh38
NC_000013.10:g.23915069T>C , CM000675.1:g.23915069T>C GRCh37
NC_000013.9:g.22813069T>C NCBI36
NG_012342.1:g.97773A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+12855A>G ENSP00000508399.1:n.2185+12855A>G
ENST00000682944.1:c.2973A>G ENSP00000507173.1:p.Lys991=
ENST00000683210.1:c.2185+12855A>G ENSP00000506739.1:n.2185+12855A>G
ENST00000683270.1:c.2937A>G ENSP00000507624.1:p.Lys979=
ENST00000683367.1:c.2177-11446A>G ENSP00000507780.1:n.2177-11446A>G
ENST00000683489.1:c.2291+655A>G ENSP00000508403.1:n.2291+655A>G
ENST00000683680.1:c.2318+655A>G ENSP00000507223.1:n.2318+655A>G
ENST00000684163.1:c.2203+5881A>G ENSP00000508262.1:n.2203+5881A>G
ENST00000684196.1:n.4543-11446A>G
ENST00000684325.1:c.2185+12855A>G ENSP00000508121.1:n.2185+12855A>G
ENST00000684385.1:c.2220+5881A>G ENSP00000507855.1:n.2220+5881A>G
ENST00000684497.1:c.2185+12855A>G ENSP00000507057.1:n.2185+12855A>G
ENST00000382292.9:c.2946A>G MANE Select ENSP00000371729.3:p.Lys982=
ENST00000423156.2:c.2186-11446A>G ENSP00000390925.2:n.2186-11446A>G
ENST00000455470.6:c.2431+515A>G ENSP00000406565.2:n.2431+515A>G
ENST00000382292.7:c.2946A>G ENSP00000371729.3:p.Lys982=
ENST00000382298.7:c.2946A>G ENSP00000371735.3:p.Lys982=
ENST00000402364.1:c.696A>G ENSP00000385844.1:p.Lys232=
ENST00000423156.1:c.1058-11446A>G ENSP00000390925.1:n.1058-11446A>G
ENST00000455470.5:c.2129+515A>G
NM_001278055.1:c.2505A>G NP_001264984.1:p.Lys835=
NM_014363.5:c.2946A>G NP_055178.3:p.Lys982=
XM_005266338.1:c.2973A>G XP_005266395.1:p.Lys991=
XM_011535038.1:c.2997A>G XP_011533340.1:p.Lys999=
XM_011535039.1:c.2964A>G XP_011533341.1:p.Lys988=
XM_005266338.2:c.2973A>G XP_005266395.1:p.Lys991=
XM_011535039.2:c.2964A>G XP_011533341.1:p.Lys988=
XM_017020539.1:c.2937A>G XP_016876028.1:p.Lys979=
XM_024449337.1:c.2973A>G XP_024305105.1:p.Lys991=
NM_014363.6:c.2946A>G MANE Select NP_055178.3:p.Lys982=
NM_001278055.2:c.2505A>G NP_001264984.1:p.Lys835=