Canonical Allele Identifier: CA387513388
Gene: SACS HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.23908104A>C (hg19) chr13:g.23333965A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23333965A>C , CM000675.2:g.23333965A>C GRCh38
NC_000013.10:g.23908104A>C , CM000675.1:g.23908104A>C GRCh37
NC_000013.9:g.22806104A>C NCBI36
NG_012342.1:g.104738T>G

Transcript Alleles

HGVS Amino-acid change
NM_001278055.1:c.9470T>G NP_001264984.1:p.Leu3157Arg
NM_014363.5:c.9911T>G NP_055178.3:p.Leu3304Arg
XM_005266338.1:c.9938T>G XP_005266395.1:p.Leu3313Arg
XM_011535038.1:c.9962T>G XP_011533340.1:p.Leu3321Arg
XM_011535039.1:c.9929T>G XP_011533341.1:p.Leu3310Arg
XM_005266338.2:c.9938T>G XP_005266395.1:p.Leu3313Arg
XM_011535039.2:c.9929T>G XP_011533341.1:p.Leu3310Arg
XM_017020539.1:c.9902T>G XP_016876028.1:p.Leu3301Arg
XM_024449337.1:c.9938T>G XP_024305105.1:p.Leu3313Arg
NM_014363.6:c.9911T>G MANE Select NP_055178.3:p.Leu3304Arg
NM_001278055.2:c.9470T>G NP_001264984.1:p.Leu3157Arg
ENST00000382292.7:c.9911T>G ENSP00000371729.3:p.Leu3304Arg
ENST00000382298.7:c.9911T>G ENSP00000371735.3:p.Leu3304Arg
ENST00000402364.1:c.7661T>G ENSP00000385844.1:p.Leu2554Arg
ENST00000423156.1:n.1058-4481T>G ENSP00000390925.1:p.=
ENST00000455470.5:n.2130-4481T>G
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