Canonical Allele Identifier: CA387506471
Gene: SACS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23330955T>G , CM000675.2:g.23330955T>G GRCh38
NC_000013.10:g.23905094T>G , CM000675.1:g.23905094T>G GRCh37
NC_000013.9:g.22803094T>G NCBI36
NG_012342.1:g.107748A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000382292.9:c.12921A>C MANE Select ENSP00000371729.3:p.Leu4307Phe
ENST00000423156.2:c.2186-1471A>C ENSP00000390925.2:p.=
ENST00000455470.6:c.2432-1471A>C ENSP00000406565.2:p.=
ENST00000382292.7:c.12921A>C ENSP00000371729.3:p.Leu4307Phe
ENST00000382298.7:c.12921A>C ENSP00000371735.3:p.Leu4307Phe
ENST00000402364.1:c.10671A>C ENSP00000385844.1:p.Leu3557Phe
ENST00000423156.1:n.1058-1471A>C ENSP00000390925.1:p.=
ENST00000455470.5:n.2130-1471A>C
NM_001278055.1:c.12480A>C NP_001264984.1:p.Leu4160Phe
NM_014363.5:c.12921A>C NP_055178.3:p.Leu4307Phe
XM_005266338.1:c.12948A>C XP_005266395.1:p.Leu4316Phe
XM_011535038.1:c.12972A>C XP_011533340.1:p.Leu4324Phe
XM_011535039.1:c.12939A>C XP_011533341.1:p.Leu4313Phe
XM_005266338.2:c.12948A>C XP_005266395.1:p.Leu4316Phe
XM_011535039.2:c.12939A>C XP_011533341.1:p.Leu4313Phe
XM_017020539.1:c.12912A>C XP_016876028.1:p.Leu4304Phe
XM_024449337.1:c.12948A>C XP_024305105.1:p.Leu4316Phe
NM_014363.6:c.12921A>C MANE Select NP_055178.3:p.Leu4307Phe
NM_001278055.2:c.12480A>C NP_001264984.1:p.Leu4160Phe