Canonical Allele Identifier: CA387506467
Gene: SACS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23330954T>C , CM000675.2:g.23330954T>C GRCh38
NC_000013.10:g.23905093T>C , CM000675.1:g.23905093T>C GRCh37
NC_000013.9:g.22803093T>C NCBI36
NG_012342.1:g.107749A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000382292.9:c.12922A>G MANE Select ENSP00000371729.3:p.Lys4308Glu
ENST00000423156.2:c.2186-1470A>G ENSP00000390925.2:p.=
ENST00000455470.6:c.2432-1470A>G ENSP00000406565.2:p.=
ENST00000382292.7:c.12922A>G ENSP00000371729.3:p.Lys4308Glu
ENST00000382298.7:c.12922A>G ENSP00000371735.3:p.Lys4308Glu
ENST00000402364.1:c.10672A>G ENSP00000385844.1:p.Lys3558Glu
ENST00000423156.1:n.1058-1470A>G ENSP00000390925.1:p.=
ENST00000455470.5:n.2130-1470A>G
NM_001278055.1:c.12481A>G NP_001264984.1:p.Lys4161Glu
NM_014363.5:c.12922A>G NP_055178.3:p.Lys4308Glu
XM_005266338.1:c.12949A>G XP_005266395.1:p.Lys4317Glu
XM_011535038.1:c.12973A>G XP_011533340.1:p.Lys4325Glu
XM_011535039.1:c.12940A>G XP_011533341.1:p.Lys4314Glu
XM_005266338.2:c.12949A>G XP_005266395.1:p.Lys4317Glu
XM_011535039.2:c.12940A>G XP_011533341.1:p.Lys4314Glu
XM_017020539.1:c.12913A>G XP_016876028.1:p.Lys4305Glu
XM_024449337.1:c.12949A>G XP_024305105.1:p.Lys4317Glu
NM_014363.6:c.12922A>G MANE Select NP_055178.3:p.Lys4308Glu
NM_001278055.2:c.12481A>G NP_001264984.1:p.Lys4161Glu