Canonical Allele Identifier: CA387513374
Gene: SACS HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.23908098A>C (hg19) chr13:g.23333959A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23333959A>C , CM000675.2:g.23333959A>C GRCh38
NC_000013.10:g.23908098A>C , CM000675.1:g.23908098A>C GRCh37
NC_000013.9:g.22806098A>C NCBI36
NG_012342.1:g.104744T>G

Transcript Alleles

HGVS Amino-acid change
NM_001278055.1:c.9476T>G NP_001264984.1:p.Leu3159Arg
NM_014363.5:c.9917T>G NP_055178.3:p.Leu3306Arg
XM_005266338.1:c.9944T>G XP_005266395.1:p.Leu3315Arg
XM_011535038.1:c.9968T>G XP_011533340.1:p.Leu3323Arg
XM_011535039.1:c.9935T>G XP_011533341.1:p.Leu3312Arg
XM_005266338.2:c.9944T>G XP_005266395.1:p.Leu3315Arg
XM_011535039.2:c.9935T>G XP_011533341.1:p.Leu3312Arg
XM_017020539.1:c.9908T>G XP_016876028.1:p.Leu3303Arg
XM_024449337.1:c.9944T>G XP_024305105.1:p.Leu3315Arg
NM_014363.6:c.9917T>G MANE Select NP_055178.3:p.Leu3306Arg
NM_001278055.2:c.9476T>G NP_001264984.1:p.Leu3159Arg
ENST00000382292.7:c.9917T>G ENSP00000371729.3:p.Leu3306Arg
ENST00000382298.7:c.9917T>G ENSP00000371735.3:p.Leu3306Arg
ENST00000402364.1:c.7667T>G ENSP00000385844.1:p.Leu2556Arg
ENST00000423156.1:n.1058-4475T>G ENSP00000390925.1:p.=
ENST00000455470.5:n.2130-4475T>G
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