Canonical Allele Identifier: CA387513385
Gene: SACS HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.23908102T>A (hg19) chr13:g.23333963T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23333963T>A , CM000675.2:g.23333963T>A GRCh38
NC_000013.10:g.23908102T>A , CM000675.1:g.23908102T>A GRCh37
NC_000013.9:g.22806102T>A NCBI36
NG_012342.1:g.104740A>T

Transcript Alleles

HGVS Amino-acid change
NM_001278055.1:c.9472A>T NP_001264984.1:p.Ser3158Cys
NM_014363.5:c.9913A>T NP_055178.3:p.Ser3305Cys
XM_005266338.1:c.9940A>T XP_005266395.1:p.Ser3314Cys
XM_011535038.1:c.9964A>T XP_011533340.1:p.Ser3322Cys
XM_011535039.1:c.9931A>T XP_011533341.1:p.Ser3311Cys
XM_005266338.2:c.9940A>T XP_005266395.1:p.Ser3314Cys
XM_011535039.2:c.9931A>T XP_011533341.1:p.Ser3311Cys
XM_017020539.1:c.9904A>T XP_016876028.1:p.Ser3302Cys
XM_024449337.1:c.9940A>T XP_024305105.1:p.Ser3314Cys
NM_014363.6:c.9913A>T MANE Select NP_055178.3:p.Ser3305Cys
NM_001278055.2:c.9472A>T NP_001264984.1:p.Ser3158Cys
ENST00000382292.7:c.9913A>T ENSP00000371729.3:p.Ser3305Cys
ENST00000382298.7:c.9913A>T ENSP00000371735.3:p.Ser3305Cys
ENST00000402364.1:c.7663A>T ENSP00000385844.1:p.Ser2555Cys
ENST00000423156.1:n.1058-4479A>T ENSP00000390925.1:p.=
ENST00000455470.5:n.2130-4479A>T
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