Canonical Allele Identifier: CA2627714521
Gene: SPRED1 HGNC NCBI

Linked Data

gnomAD v4: 15-38253285-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38253285C>A , CM000677.2:g.38253285C>A GRCh38
NC_000015.9:g.38545486C>A , CM000677.1:g.38545486C>A GRCh37
NC_000015.8:g.36332778C>A NCBI36
NG_008980.1:g.5435C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.32+68C>A MANE Select ENSP00000299084.4:n.32+68C>A
ENST00000299084.8:c.32+68C>A ENSP00000299084.4:n.32+68C>A
ENST00000561205.1:n.370+68C>A
ENST00000561317.1:c.-96+68C>A ENSP00000453680.1:n.-96+68C>A
NM_152594.2:c.32+68C>A NP_689807.1:n.32+68C>A
XM_005254202.2:c.32+68C>A XP_005254259.1:n.32+68C>A
XM_005254203.3:c.-16+68C>A XP_005254260.1:n.-16+68C>A
XM_005254202.3:c.32+68C>A XP_005254259.1:n.32+68C>A
XR_001751484.1:n.87+282G>T
NM_152594.3:c.32+68C>A MANE Select NP_689807.1:n.32+68C>A
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