Canonical Allele Identifier: CA489975448
Gene: CHST14 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.40764459G>A (hg19)

Genomic Alleles

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

Transcript Alleles

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