Canonical Allele Identifier: CA248175162
Gene: SPART HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.36336114T>C , CM000675.2:g.36336114T>C GRCh38
NC_000013.10:g.36910251T>C , CM000675.1:g.36910251T>C GRCh37
NC_000013.9:g.35808251T>C NCBI36
NG_011559.1:g.39067A>G
NG_011559.2:g.39067A>G

Transcript Alleles

HGVS Amino-acid Change
NM_015087.5:c.-2-282A>G MANE Select NP_055902.1:n.-2-282A>G
ENST00000438666.7:c.-2-282A>G MANE Select ENSP00000406061.2:n.-2-282A>G
NM_001142294.1:c.-2-282A>G NP_001135766.1:n.-2-282A>G
NM_001142294.2:c.-2-282A>G NP_001135766.1:n.-2-282A>G
NM_001142295.1:c.-2-282A>G NP_001135767.1:n.-2-282A>G
NM_001142295.2:c.-2-282A>G NP_001135767.1:n.-2-282A>G
NM_001142296.1:c.-3+173A>G NP_001135768.1:n.-3+173A>G
NM_001142296.2:c.-3+173A>G NP_001135768.1:n.-3+173A>G
NM_015087.4:c.-2-282A>G NP_055902.1:n.-2-282A>G
ENST00000355182.8:c.-2-282A>G ENSP00000347314.4:n.-2-282A>G
ENST00000438666.6:c.-2-282A>G ENSP00000406061.2:n.-2-282A>G
ENST00000451493.5:c.-2-282A>G ENSP00000414147.1:n.-2-282A>G
ENST00000476377.1:n.111-282A>G
ENST00000494062.2:c.-3+173A>G ENSP00000473599.1:n.-3+173A>G
ENST00000494703.1:n.197-282A>G
ENST00000495510.1:n.60-282A>G
ENST00000650221.1:c.-2-282A>G ENSP00000497209.1:n.-2-282A>G
XM_005266313.3:c.-2-282A>G XP_005266370.1:n.-2-282A>G
XM_005266313.5:c.-2-282A>G XP_005266370.1:n.-2-282A>G
XM_005266314.2:c.-3+173A>G XP_005266371.1:n.-3+173A>G
XM_005266314.3:c.-3+173A>G XP_005266371.1:n.-3+173A>G
XM_005266315.2:c.-3+173A>G XP_005266372.1:n.-3+173A>G
XM_005266315.3:c.-3+173A>G XP_005266372.1:n.-3+173A>G
XM_005266316.2:c.-3+173A>G XP_005266373.1:n.-3+173A>G
XM_005266317.2:c.-2-282A>G XP_005266374.1:n.-2-282A>G
XM_005266317.3:c.-2-282A>G XP_005266374.1:n.-2-282A>G
XM_011535012.1:c.-2-282A>G XP_011533314.1:n.-2-282A>G
XM_011535012.2:c.-2-282A>G XP_011533314.1:n.-2-282A>G
XM_024449334.1:c.-3+173A>G XP_024305102.1:n.-3+173A>G
XR_001749523.2:n.227-282A>G
XR_941540.1:n.261-282A>G