Canonical Allele Identifier: CA391769033
Gene: CHST14 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40472313C>A , CM000677.2:g.40472313C>A GRCh38
NC_000015.9:g.40764512C>A , CM000677.1:g.40764512C>A GRCh37
NC_000015.8:g.38551804C>A NCBI36
NG_017074.1:g.6353C>A , LRG_600:g.6353C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000306243.7:c.1100C>A MANE Select ENSP00000307297.6:p.Pro367His
ENST00000306243.6:c.1100C>A ENSP00000307297.5:p.Pro367His
ENST00000559991.1:c.1025C>A ENSP00000453882.1:p.Pro342His
NM_130468.3:c.1100C>A , LRG_600t1:c.1100C>A NP_569735.1:p.Pro367His
NM_130468.4:c.1100C>A MANE Select NP_569735.1:p.Pro367His