Canonical Allele Identifier: CA218160288
Gene: SPON1 HGNC NCBI

Linked Data

dbSNP Id: rs782290093
gnomAD v2: 11-13996297-G-A
gnomAD v3: 11-13974750-G-A
gnomAD v4: 11-13974750-G-A
MyVariant Identifiers: chr11:g.13996297G>A (hg19) chr11:g.13974750G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.13974750G>A , CM000673.2:g.13974750G>A GRCh38
NC_000011.9:g.13996297G>A , CM000673.1:g.13996297G>A GRCh37
NC_000011.8:g.13952873G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000576479.4:c.239-8097G>A MANE Select ENSP00000460236.1:n.239-8097G>A
ENST00000576479.3:c.239-8097G>A ENSP00000460236.1:n.239-8097G>A
NM_006108.3:c.239-8097G>A NP_006099.2:n.239-8097G>A
NM_006108.4:c.239-8097G>A MANE Select NP_006099.2:n.239-8097G>A
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