Canonical Allele Identifier: CA2627825225
Gene: CHST14 HGNC NCBI

Linked Data

gnomAD v4: 15-40472563-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40472563T>G , CM000677.2:g.40472563T>G GRCh38
NC_000015.9:g.40764762T>G , CM000677.1:g.40764762T>G GRCh37
NC_000015.8:g.38552054T>G NCBI36
NG_017074.1:g.6603T>G , LRG_600:g.6603T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000306243.7:c.*219T>G MANE Select ENSP00000307297.6:n.*219T>G
ENST00000306243.6:c.*219T>G ENSP00000307297.5:n.*219T>G
ENST00000559991.1:c.*219T>G ENSP00000453882.1:n.*219T>G
NM_130468.3:c.*219T>G , LRG_600t1:c.*219T>G NP_569735.1:n.*219T>G
NM_130468.4:c.*219T>G MANE Select NP_569735.1:n.*219T>G
Search 100 bp 5'
Search 100 bp 3'