Canonical Allele Identifier: CA10634154
Gene: SPART HGNC NCBI

Linked Data

ClinVar Variation Id: 311751
ClinVar RCV Id: RCV000356091
dbSNP Id: rs7333861

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.36303441G>T , CM000675.2:g.36303441G>T GRCh38
NC_000013.10:g.36877578G>T , CM000675.1:g.36877578G>T GRCh37
NC_000013.9:g.35775578G>T NCBI36
NG_011559.1:g.71740C>A
NG_011559.2:g.71740C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000438666.7:c.*924C>A MANE Select ENSP00000406061.2:n.*924C>A
ENST00000650221.1:c.*924C>A ENSP00000497209.1:n.*924C>A
ENST00000355182.8:c.*924C>A ENSP00000347314.4:n.*924C>A
ENST00000438666.6:c.*924C>A ENSP00000406061.2:n.*924C>A
ENST00000451493.5:c.*924C>A ENSP00000414147.1:n.*924C>A
NM_001142294.1:c.*924C>A NP_001135766.1:n.*924C>A
NM_001142295.1:c.*924C>A NP_001135767.1:n.*924C>A
NM_001142296.1:c.*924C>A NP_001135768.1:n.*924C>A
NM_015087.4:c.*924C>A NP_055902.1:n.*924C>A
XM_005266313.3:c.*924C>A XP_005266370.1:n.*924C>A
XM_005266314.2:c.*924C>A XP_005266371.1:n.*924C>A
XM_005266315.2:c.*924C>A XP_005266372.1:n.*924C>A
XM_005266316.2:c.*924C>A XP_005266373.1:n.*924C>A
XM_005266317.2:c.*924C>A XP_005266374.1:n.*924C>A
XM_011535012.1:c.*924C>A XP_011533314.1:n.*924C>A
XM_005266313.5:c.*924C>A XP_005266370.1:n.*924C>A
XM_005266314.3:c.*924C>A XP_005266371.1:n.*924C>A
XM_005266315.3:c.*924C>A XP_005266372.1:n.*924C>A
XM_005266317.3:c.*924C>A XP_005266374.1:n.*924C>A
XM_011535012.2:c.*924C>A XP_011533314.1:n.*924C>A
XM_024449334.1:c.*924C>A XP_024305102.1:n.*924C>A
XR_001749523.2:n.3268C>A
NM_015087.5:c.*924C>A MANE Select NP_055902.1:n.*924C>A
NM_001142296.2:c.*924C>A NP_001135768.1:n.*924C>A
NM_001142294.2:c.*924C>A NP_001135766.1:n.*924C>A
NM_001142295.2:c.*924C>A NP_001135767.1:n.*924C>A