Canonical Allele Identifier: CA2627714144
Gene: SPRED1 HGNC NCBI

Linked Data

gnomAD v4: 15-38252942-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38252942T>G , CM000677.2:g.38252942T>G GRCh38
NC_000015.9:g.38545143T>G , CM000677.1:g.38545143T>G GRCh37
NC_000015.8:g.36332435T>G NCBI36
NG_008980.1:g.5092T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.-244T>G MANE Select ENSP00000299084.4:n.-244T>G
ENST00000299084.8:c.-244T>G ENSP00000299084.4:n.-244T>G
ENST00000561205.1:n.95T>G
NM_152594.2:c.-244T>G NP_689807.1:n.-244T>G
XM_005254202.2:c.-244T>G XP_005254259.1:n.-244T>G
XM_005254203.3:c.-291T>G XP_005254260.1:n.-291T>G
XM_005254202.3:c.-244T>G XP_005254259.1:n.-244T>G
XR_001751484.1:n.87+625A>C
NM_152594.3:c.-244T>G MANE Select NP_689807.1:n.-244T>G
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