Canonical Allele Identifier: CA16041606
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 371095
ClinVar RCV Id: RCV000411733
dbSNP Id: rs1057517002

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23333072G>A , CM000675.2:g.23333072G>A GRCh38
NC_000013.10:g.23907211G>A , CM000675.1:g.23907211G>A GRCh37
NC_000013.9:g.22805211G>A NCBI36
NG_012342.1:g.105631C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000382292.9:c.10804C>T MANE Select ENSP00000371729.3:p.Gln3602Ter
ENST00000423156.2:c.2186-3588C>T ENSP00000390925.2:p.=
ENST00000455470.6:c.2432-3588C>T ENSP00000406565.2:p.=
ENST00000382292.7:c.10804C>T ENSP00000371729.3:p.Gln3602Ter
ENST00000382298.7:c.10804C>T ENSP00000371735.3:p.Gln3602Ter
ENST00000402364.1:c.8554C>T ENSP00000385844.1:p.Gln2852Ter
ENST00000423156.1:n.1058-3588C>T ENSP00000390925.1:p.=
ENST00000455470.5:n.2130-3588C>T
NM_001278055.1:c.10363C>T NP_001264984.1:p.Gln3455Ter
NM_014363.5:c.10804C>T NP_055178.3:p.Gln3602Ter
XM_005266338.1:c.10831C>T XP_005266395.1:p.Gln3611Ter
XM_011535038.1:c.10855C>T XP_011533340.1:p.Gln3619Ter
XM_011535039.1:c.10822C>T XP_011533341.1:p.Gln3608Ter
XM_005266338.2:c.10831C>T XP_005266395.1:p.Gln3611Ter
XM_011535039.2:c.10822C>T XP_011533341.1:p.Gln3608Ter
XM_017020539.1:c.10795C>T XP_016876028.1:p.Gln3599Ter
XM_024449337.1:c.10831C>T XP_024305105.1:p.Gln3611Ter
NM_014363.6:c.10804C>T MANE Select NP_055178.3:p.Gln3602Ter
NM_001278055.2:c.10363C>T NP_001264984.1:p.Gln3455Ter