Canonical Allele Identifier: CA387513376
Gene: SACS HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000382292.9:c.9917T>A MANE Select ENSP00000371729.3:p.Leu3306His
ENST00000423156.2:c.2186-4475T>A ENSP00000390925.2:p.=
ENST00000455470.6:c.2432-4475T>A ENSP00000406565.2:p.=
ENST00000382292.7:c.9917T>A ENSP00000371729.3:p.Leu3306His
ENST00000382298.7:c.9917T>A ENSP00000371735.3:p.Leu3306His
ENST00000402364.1:c.7667T>A ENSP00000385844.1:p.Leu2556His
ENST00000423156.1:n.1058-4475T>A ENSP00000390925.1:p.=
ENST00000455470.5:n.2130-4475T>A
NM_001278055.1:c.9476T>A NP_001264984.1:p.Leu3159His
NM_014363.5:c.9917T>A NP_055178.3:p.Leu3306His
XM_005266338.1:c.9944T>A XP_005266395.1:p.Leu3315His
XM_011535038.1:c.9968T>A XP_011533340.1:p.Leu3323His
XM_011535039.1:c.9935T>A XP_011533341.1:p.Leu3312His
XM_005266338.2:c.9944T>A XP_005266395.1:p.Leu3315His
XM_011535039.2:c.9935T>A XP_011533341.1:p.Leu3312His
XM_017020539.1:c.9908T>A XP_016876028.1:p.Leu3303His
XM_024449337.1:c.9944T>A XP_024305105.1:p.Leu3315His
NM_014363.6:c.9917T>A MANE Select NP_055178.3:p.Leu3306His
NM_001278055.2:c.9476T>A NP_001264984.1:p.Leu3159His