Canonical Allele Identifier: CA2171795591
Gene: CHST14 HGNC NCBI

Linked Data

dbSNP Id: rs1595869880
gnomAD v4: 15-40472562-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40472562A>G , CM000677.2:g.40472562A>G GRCh38
NC_000015.9:g.40764761A>G , CM000677.1:g.40764761A>G GRCh37
NC_000015.8:g.38552053A>G NCBI36
NG_017074.1:g.6602A>G , LRG_600:g.6602A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000306243.7:c.*218A>G MANE Select ENSP00000307297.6:n.*218A>G
ENST00000306243.6:c.*218A>G ENSP00000307297.5:n.*218A>G
ENST00000559991.1:c.*218A>G ENSP00000453882.1:n.*218A>G
NM_130468.3:c.*218A>G , LRG_600t1:c.*218A>G NP_569735.1:n.*218A>G
NM_130468.4:c.*218A>G MANE Select NP_569735.1:n.*218A>G
Search 100 bp 5'
Search 100 bp 3'