Canonical Allele Identifier: CA387506476
Gene: SACS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23330956A>C , CM000675.2:g.23330956A>C GRCh38
NC_000013.10:g.23905095A>C , CM000675.1:g.23905095A>C GRCh37
NC_000013.9:g.22803095A>C NCBI36
NG_012342.1:g.107747T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000382292.9:c.12920T>G MANE Select ENSP00000371729.3:p.Leu4307Ter
ENST00000423156.2:c.2186-1472T>G ENSP00000390925.2:p.=
ENST00000455470.6:c.2432-1472T>G ENSP00000406565.2:p.=
ENST00000382292.7:c.12920T>G ENSP00000371729.3:p.Leu4307Ter
ENST00000382298.7:c.12920T>G ENSP00000371735.3:p.Leu4307Ter
ENST00000402364.1:c.10670T>G ENSP00000385844.1:p.Leu3557Ter
ENST00000423156.1:n.1058-1472T>G ENSP00000390925.1:p.=
ENST00000455470.5:n.2130-1472T>G
NM_001278055.1:c.12479T>G NP_001264984.1:p.Leu4160Ter
NM_014363.5:c.12920T>G NP_055178.3:p.Leu4307Ter
XM_005266338.1:c.12947T>G XP_005266395.1:p.Leu4316Ter
XM_011535038.1:c.12971T>G XP_011533340.1:p.Leu4324Ter
XM_011535039.1:c.12938T>G XP_011533341.1:p.Leu4313Ter
XM_005266338.2:c.12947T>G XP_005266395.1:p.Leu4316Ter
XM_011535039.2:c.12938T>G XP_011533341.1:p.Leu4313Ter
XM_017020539.1:c.12911T>G XP_016876028.1:p.Leu4304Ter
XM_024449337.1:c.12947T>G XP_024305105.1:p.Leu4316Ter
NM_014363.6:c.12920T>G MANE Select NP_055178.3:p.Leu4307Ter
NM_001278055.2:c.12479T>G NP_001264984.1:p.Leu4160Ter