Allele Registry

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

Canonical Allele Identifier: CA489764117

Gene: CHST14 HGNC NCBI

Linked Data

dbSNP Id: rs1035955777

gnomAD v4: 15-40471291-T-A

MyVariant Identifiers: chr15:g.40763490T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40471291T>A , CM000677.2:g.40471291T>A	GRCh38
NC_000015.9:g.40763490T>A , CM000677.1:g.40763490T>A	GRCh37
NC_000015.8:g.38550782T>A	NCBI36
NG_017074.1:g.5331T>A , LRG_600:g.5331T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000306243.7:c.78T>A MANE Select	ENSP00000307297.6:p.Pro26=
ENST00000306243.6:c.78T>A	ENSP00000307297.5:p.Pro26=
ENST00000559991.1:c.78T>A	ENSP00000453882.1:p.Pro26=
NM_130468.3:c.78T>A , LRG_600t1:c.78T>A	NP_569735.1:p.Pro26=
NM_130468.4:c.78T>A MANE Select	NP_569735.1:p.Pro26=