Canonical Allele Identifier: CA387513393
Gene: SACS HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.23908105G>T (hg19) chr13:g.23333966G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23333966G>T , CM000675.2:g.23333966G>T GRCh38
NC_000013.10:g.23908105G>T , CM000675.1:g.23908105G>T GRCh37
NC_000013.9:g.22806105G>T NCBI36
NG_012342.1:g.104737C>A

Transcript Alleles

HGVS Amino-acid change
NM_001278055.1:c.9469C>A NP_001264984.1:p.Leu3157Ile
NM_014363.5:c.9910C>A NP_055178.3:p.Leu3304Ile
XM_005266338.1:c.9937C>A XP_005266395.1:p.Leu3313Ile
XM_011535038.1:c.9961C>A XP_011533340.1:p.Leu3321Ile
XM_011535039.1:c.9928C>A XP_011533341.1:p.Leu3310Ile
XM_005266338.2:c.9937C>A XP_005266395.1:p.Leu3313Ile
XM_011535039.2:c.9928C>A XP_011533341.1:p.Leu3310Ile
XM_017020539.1:c.9901C>A XP_016876028.1:p.Leu3301Ile
XM_024449337.1:c.9937C>A XP_024305105.1:p.Leu3313Ile
NM_014363.6:c.9910C>A MANE Select NP_055178.3:p.Leu3304Ile
NM_001278055.2:c.9469C>A NP_001264984.1:p.Leu3157Ile
ENST00000382292.7:c.9910C>A ENSP00000371729.3:p.Leu3304Ile
ENST00000382298.7:c.9910C>A ENSP00000371735.3:p.Leu3304Ile
ENST00000402364.1:c.7660C>A ENSP00000385844.1:p.Leu2554Ile
ENST00000423156.1:n.1058-4482C>A ENSP00000390925.1:p.=
ENST00000455470.5:n.2130-4482C>A
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