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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA392948331
Gene: SMAD6
HGNC
NCBI
Linked Data
dbSNP Id:
rs909517485
gnomAD v3:
15-66703295-C-G
gnomAD v4:
15-66703295-C-G
MyVariant Identifiers:
chr15:g.66995633C>G (hg19)
chr15:g.66703295C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.66703295C>G , CM000677.2:g.66703295C>G
GRCh38
NC_000015.9:g.66995633C>G , CM000677.1:g.66995633C>G
GRCh37
NC_000015.8:g.64782687C>G
NCBI36
NG_012244.1:g.5960C>G
NG_012244.2:g.5960C>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000288840.10:c.37C>G
MANE Select
ENSP00000288840.5:p.Leu13Val
ENST00000288840.9:c.37C>G
ENSP00000288840.5:p.Leu13Val
ENST00000557916.5:c.37C>G
ENSP00000452955.1:p.Leu13Val
ENST00000612349.1:n.219C>G
NM_005585.4:c.37C>G
NP_005576.3:p.Leu13Val
NR_027654.1:n.960C>G
XR_931825.1:n.1196C>G
XR_931826.1:n.1196C>G
XR_931827.1:n.1196C>G
XR_931827.2:n.1186C>G
NM_005585.5:c.37C>G
MANE Select
NP_005576.3:p.Leu13Val
NR_027654.2:n.1060C>G
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