Canonical Allele Identifier: CA1201536810
Gene: SPTA1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.158612624G= , CM000663.2:g.158612624G= GRCh38
NC_000001.10:g.158582414G= , CM000663.1:g.158582414G= GRCh37
NC_000001.9:g.156849038G= NCBI36
NG_011474.1:g.79093C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000643759.2:c.7134+193C= MANE Select ENSP00000495214.1:n.7134+193C=
ENST00000368147.8:c.7134+193C= ENSP00000357129.4:n.7134+193C=
ENST00000614909.4:c.7134+193C= ENSP00000482595.1:n.7134+193C=
NM_003126.2:c.7134+193C= NP_003117.2:n.7134+193C=
XM_011509916.1:c.7134+193C= XP_011508218.1:n.7134+193C=
XM_011509917.1:c.7116+193C= XP_011508219.1:n.7116+193C=
NM_003126.3:c.7134+193C= NP_003117.2:n.7134+193C=
XM_011509916.2:c.7134+193C= XP_011508218.1:n.7134+193C=
XM_011509917.3:c.7116+193C= XP_011508219.1:n.7116+193C=
NM_003126.4:c.7134+193C= MANE Select NP_003117.2:n.7134+193C=
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