Canonical Allele Identifier: CA2627714369
Gene: SPRED1 HGNC NCBI

Linked Data

gnomAD v4: 15-38253110-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38253110T>G , CM000677.2:g.38253110T>G GRCh38
NC_000015.9:g.38545311T>G , CM000677.1:g.38545311T>G GRCh37
NC_000015.8:g.36332603T>G NCBI36
NG_008980.1:g.5260T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.-76T>G MANE Select ENSP00000299084.4:n.-76T>G
ENST00000299084.8:c.-76T>G ENSP00000299084.4:n.-76T>G
ENST00000561205.1:n.263T>G
NM_152594.2:c.-76T>G NP_689807.1:n.-76T>G
XM_005254202.2:c.-76T>G XP_005254259.1:n.-76T>G
XM_005254203.3:c.-123T>G XP_005254260.1:n.-123T>G
XM_005254202.3:c.-76T>G XP_005254259.1:n.-76T>G
XR_001751484.1:n.87+457A>C
NM_152594.3:c.-76T>G MANE Select NP_689807.1:n.-76T>G
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