Canonical Allele Identifier: CA2171795538
Gene: CHST14 HGNC NCBI

Linked Data

dbSNP Id: rs1894364958
gnomAD v4: 15-40472452-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40472452G>A , CM000677.2:g.40472452G>A GRCh38
NC_000015.9:g.40764651G>A , CM000677.1:g.40764651G>A GRCh37
NC_000015.8:g.38551943G>A NCBI36
NG_017074.1:g.6492G>A , LRG_600:g.6492G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000306243.7:c.*108G>A MANE Select ENSP00000307297.6:n.*108G>A
ENST00000306243.6:c.*108G>A ENSP00000307297.5:n.*108G>A
ENST00000559991.1:c.*108G>A ENSP00000453882.1:n.*108G>A
NM_130468.3:c.*108G>A , LRG_600t1:c.*108G>A NP_569735.1:n.*108G>A
NM_130468.4:c.*108G>A MANE Select NP_569735.1:n.*108G>A
Search 100 bp 5'
Search 100 bp 3'