Canonical Allele Identifier: CA268823252
Gene: CHST14 HGNC NCBI

Linked Data

dbSNP Id: rs990941283
gnomAD v4: 15-40472564-C-T
MyVariant Identifiers: chr15:g.40764763C>T (hg19) chr15:g.40472564C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40472564C>T , CM000677.2:g.40472564C>T GRCh38
NC_000015.9:g.40764763C>T , CM000677.1:g.40764763C>T GRCh37
NC_000015.8:g.38552055C>T NCBI36
NG_017074.1:g.6604C>T , LRG_600:g.6604C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000306243.7:c.*220C>T MANE Select ENSP00000307297.6:n.*220C>T
ENST00000306243.6:c.*220C>T ENSP00000307297.5:n.*220C>T
ENST00000559991.1:c.*220C>T ENSP00000453882.1:n.*220C>T
NM_130468.3:c.*220C>T , LRG_600t1:c.*220C>T NP_569735.1:n.*220C>T
NM_130468.4:c.*220C>T MANE Select NP_569735.1:n.*220C>T
Search 100 bp 5'
Search 100 bp 3'