Canonical Allele Identifier: CA391768772
Gene: CHST14 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40472258C>A , CM000677.2:g.40472258C>A GRCh38
NC_000015.9:g.40764457C>A , CM000677.1:g.40764457C>A GRCh37
NC_000015.8:g.38551749C>A NCBI36
NG_017074.1:g.6298C>A , LRG_600:g.6298C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000306243.7:c.1045C>A MANE Select ENSP00000307297.6:p.Gln349Lys
ENST00000306243.6:c.1045C>A ENSP00000307297.5:p.Gln349Lys
ENST00000559991.1:c.970C>A ENSP00000453882.1:p.Gln324Lys
NM_130468.3:c.1045C>A , LRG_600t1:c.1045C>A NP_569735.1:p.Gln349Lys
NM_130468.4:c.1045C>A MANE Select NP_569735.1:p.Gln349Lys