Canonical Allele Identifier: CA281522
Gene: CHST14 HGNC NCBI

Linked Data

ClinVar Variation Id: 2337
dbSNP Id: rs121908257

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40471851G>C , CM000677.2:g.40471851G>C GRCh38
NC_000015.9:g.40764050G>C , CM000677.1:g.40764050G>C GRCh37
NC_000015.8:g.38551342G>C NCBI36
NG_017074.1:g.5891G>C , LRG_600:g.5891G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000306243.7:c.638G>C MANE Select ENSP00000307297.6:p.Arg213Pro
ENST00000306243.6:c.638G>C ENSP00000307297.5:p.Arg213Pro
ENST00000559991.1:c.563G>C ENSP00000453882.1:p.Arg188Pro
NM_130468.3:c.638G>C , LRG_600t1:c.638G>C NP_569735.1:p.Arg213Pro
NM_130468.4:c.638G>C MANE Select NP_569735.1:p.Arg213Pro