Canonical Allele Identifier: CA2171795460
Gene: CHST14 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40472260G= , CM000677.2:g.40472260G= GRCh38
NC_000015.9:g.40764459G= , CM000677.1:g.40764459G= GRCh37
NC_000015.8:g.38551751G= NCBI36
NG_017074.1:g.6300G= , LRG_600:g.6300G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000306243.7:c.1047G= MANE Select ENSP00000307297.6:p.Gln349=
ENST00000306243.6:c.1047G= ENSP00000307297.5:p.Gln349=
ENST00000559991.1:c.972G= ENSP00000453882.1:p.Gln324=
NM_130468.3:c.1047G= , LRG_600t1:c.1047G= NP_569735.1:p.Gln349=
NM_130468.4:c.1047G= MANE Select NP_569735.1:p.Gln349=