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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:
CA489975430
Gene: CHST14
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr15:g.40764195C>A (hg19)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.40471996C>A , CM000677.2:g.40471996C>A
GRCh38
NC_000015.9:g.40764195C>A , CM000677.1:g.40764195C>A
GRCh37
NC_000015.8:g.38551487C>A
NCBI36
NG_017074.1:g.6036C>A , LRG_600:g.6036C>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000306243.7:c.783C>A
MANE Select
ENSP00000307297.6:p.Pro261=
ENST00000306243.6:c.783C>A
ENSP00000307297.5:p.Pro261=
ENST00000559991.1:c.708C>A
ENSP00000453882.1:p.Pro236=
NM_130468.3:c.783C>A , LRG_600t1:c.783C>A
NP_569735.1:p.Pro261=
NM_130468.4:c.783C>A
MANE Select
NP_569735.1:p.Pro261=
Search 100 bp 5'
Search 100 bp 3'