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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:
CA1304728007
Gene: GALNT3
HGNC
NCBI
Linked Data
dbSNP Id:
rs1430211230
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.165747801G>A , CM000664.2:g.165747801G>A
GRCh38
NC_000002.11:g.166604311G>A , CM000664.1:g.166604311G>A
GRCh37
NC_000002.10:g.166312557G>A
NCBI36
NG_012069.1:g.51493C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000392701.8:c.*980C>T
MANE Select
ENSP00000376465.3:n.*980C>T
ENST00000392701.7:c.*980C>T
ENSP00000376465.3:n.*980C>T
NM_004482.4:c.*980C>T
MANE Select
NP_004473.2:n.*980C>T
Search 100 bp 5'
Search 100 bp 3'