Canonical Allele Identifier: CA489764054
Gene: CHST14 HGNC NCBI

Linked Data

dbSNP Id: rs1894338371
gnomAD v4: 15-40471225-C-T
MyVariant Identifiers: chr15:g.40763424C>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40471225C>T , CM000677.2:g.40471225C>T GRCh38
NC_000015.9:g.40763424C>T , CM000677.1:g.40763424C>T GRCh37
NC_000015.8:g.38550716C>T NCBI36
NG_017074.1:g.5265C>T , LRG_600:g.5265C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000306243.7:c.12C>T MANE Select ENSP00000307297.6:p.Arg4=
ENST00000306243.6:c.12C>T ENSP00000307297.5:p.Arg4=
ENST00000559991.1:c.12C>T ENSP00000453882.1:p.Arg4=
NM_130468.3:c.12C>T , LRG_600t1:c.12C>T NP_569735.1:p.Arg4=
NM_130468.4:c.12C>T MANE Select NP_569735.1:p.Arg4=
Search 100 bp 5'
Search 100 bp 3'