Canonical Allele Identifier: CA483157790
Gene: SACS HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.23905103T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23330964T>A , CM000675.2:g.23330964T>A GRCh38
NC_000013.10:g.23905103T>A , CM000675.1:g.23905103T>A GRCh37
NC_000013.9:g.22803103T>A NCBI36
NG_012342.1:g.107739A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000382292.9:c.12912A>T MANE Select ENSP00000371729.3:p.Pro4304=
ENST00000423156.2:c.2186-1480A>T ENSP00000390925.2:p.=
ENST00000455470.6:c.2432-1480A>T ENSP00000406565.2:p.=
ENST00000382292.7:c.12912A>T ENSP00000371729.3:p.Pro4304=
ENST00000382298.7:c.12912A>T ENSP00000371735.3:p.Pro4304=
ENST00000402364.1:c.10662A>T ENSP00000385844.1:p.Pro3554=
ENST00000423156.1:n.1058-1480A>T ENSP00000390925.1:p.=
ENST00000455470.5:n.2130-1480A>T
NM_001278055.1:c.12471A>T NP_001264984.1:p.Pro4157=
NM_014363.5:c.12912A>T NP_055178.3:p.Pro4304=
XM_005266338.1:c.12939A>T XP_005266395.1:p.Pro4313=
XM_011535038.1:c.12963A>T XP_011533340.1:p.Pro4321=
XM_011535039.1:c.12930A>T XP_011533341.1:p.Pro4310=
XM_005266338.2:c.12939A>T XP_005266395.1:p.Pro4313=
XM_011535039.2:c.12930A>T XP_011533341.1:p.Pro4310=
XM_017020539.1:c.12903A>T XP_016876028.1:p.Pro4301=
XM_024449337.1:c.12939A>T XP_024305105.1:p.Pro4313=
NM_014363.6:c.12912A>T MANE Select NP_055178.3:p.Pro4304=
NM_001278055.2:c.12471A>T NP_001264984.1:p.Pro4157=