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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:
CA397135355
Gene: CDH15
HGNC
NCBI
Linked Data
gnomAD v4:
16-89179562-C-A
MyVariant Identifiers:
chr16:g.89245970C>A (hg19)
chr16:g.89179562C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.89179562C>A , CM000678.2:g.89179562C>A
GRCh38
NC_000016.9:g.89245970C>A , CM000678.1:g.89245970C>A
GRCh37
NC_000016.8:g.87773471C>A
NCBI36
NG_012055.1:g.12808C>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000289746.3:c.189C>A
MANE Select
ENSP00000289746.2:p.Tyr63Ter
ENST00000289746.2:c.189C>A
ENSP00000289746.2:p.Tyr63Ter
ENST00000521087.5:n.254C>A
ENST00000524089.1:n.254C>A
NM_004933.2:c.189C>A
NP_004924.1:p.Tyr63Ter
XM_011522806.1:c.189C>A
XP_011521108.1:p.Tyr63Ter
NM_004933.3:c.189C>A
MANE Select
NP_004924.1:p.Tyr63Ter
Search 100 bp 5'
Search 100 bp 3'