Canonical Allele Identifier: CA387513377
Gene: SACS HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.23908099G>C (hg19) chr13:g.23333960G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23333960G>C , CM000675.2:g.23333960G>C GRCh38
NC_000013.10:g.23908099G>C , CM000675.1:g.23908099G>C GRCh37
NC_000013.9:g.22806099G>C NCBI36
NG_012342.1:g.104743C>G

Transcript Alleles

HGVS Amino-acid change
NM_001278055.1:c.9475C>G NP_001264984.1:p.Leu3159Val
NM_014363.5:c.9916C>G NP_055178.3:p.Leu3306Val
XM_005266338.1:c.9943C>G XP_005266395.1:p.Leu3315Val
XM_011535038.1:c.9967C>G XP_011533340.1:p.Leu3323Val
XM_011535039.1:c.9934C>G XP_011533341.1:p.Leu3312Val
XM_005266338.2:c.9943C>G XP_005266395.1:p.Leu3315Val
XM_011535039.2:c.9934C>G XP_011533341.1:p.Leu3312Val
XM_017020539.1:c.9907C>G XP_016876028.1:p.Leu3303Val
XM_024449337.1:c.9943C>G XP_024305105.1:p.Leu3315Val
NM_014363.6:c.9916C>G MANE Select NP_055178.3:p.Leu3306Val
NM_001278055.2:c.9475C>G NP_001264984.1:p.Leu3159Val
ENST00000382292.7:c.9916C>G ENSP00000371729.3:p.Leu3306Val
ENST00000382298.7:c.9916C>G ENSP00000371735.3:p.Leu3306Val
ENST00000402364.1:c.7666C>G ENSP00000385844.1:p.Leu2556Val
ENST00000423156.1:n.1058-4476C>G ENSP00000390925.1:p.=
ENST00000455470.5:n.2130-4476C>G
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