Canonical Allele Identifier: CA489764142
Gene: CHST14 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.40764531G>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40472332G>T , CM000677.2:g.40472332G>T GRCh38
NC_000015.9:g.40764531G>T , CM000677.1:g.40764531G>T GRCh37
NC_000015.8:g.38551823G>T NCBI36
NG_017074.1:g.6372G>T , LRG_600:g.6372G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000306243.7:c.1119G>T MANE Select ENSP00000307297.6:p.Ala373=
ENST00000306243.6:c.1119G>T ENSP00000307297.5:p.Ala373=
ENST00000559991.1:c.1044G>T ENSP00000453882.1:p.Ala348=
NM_130468.3:c.1119G>T , LRG_600t1:c.1119G>T NP_569735.1:p.Ala373=
NM_130468.4:c.1119G>T MANE Select NP_569735.1:p.Ala373=
Search 100 bp 5'
Search 100 bp 3'