Canonical Allele Identifier: CA2648555589
Gene: SPTA1 HGNC NCBI

Linked Data

gnomAD v4: 1-158612722-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.158612722G>T , CM000663.2:g.158612722G>T GRCh38
NC_000001.10:g.158582512G>T , CM000663.1:g.158582512G>T GRCh37
NC_000001.9:g.156849136G>T NCBI36
NG_011474.1:g.78995C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000643759.2:c.7134+95C>A MANE Select ENSP00000495214.1:n.7134+95C>A
ENST00000368147.8:c.7134+95C>A ENSP00000357129.4:n.7134+95C>A
ENST00000614909.4:c.7134+95C>A ENSP00000482595.1:n.7134+95C>A
NM_003126.2:c.7134+95C>A NP_003117.2:n.7134+95C>A
XM_011509916.1:c.7134+95C>A XP_011508218.1:n.7134+95C>A
XM_011509917.1:c.7116+95C>A XP_011508219.1:n.7116+95C>A
NM_003126.3:c.7134+95C>A NP_003117.2:n.7134+95C>A
XM_011509916.2:c.7134+95C>A XP_011508218.1:n.7134+95C>A
XM_011509917.3:c.7116+95C>A XP_011508219.1:n.7116+95C>A
NM_003126.4:c.7134+95C>A MANE Select NP_003117.2:n.7134+95C>A
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