Canonical Allele Identifier: CA391762122
Gene: CHST14 HGNC NCBI

Linked Data

gnomAD v4: 15-40471295-G-T
MyVariant Identifiers: chr15:g.40763494G>T (hg19) chr15:g.40471295G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40471295G>T , CM000677.2:g.40471295G>T GRCh38
NC_000015.9:g.40763494G>T , CM000677.1:g.40763494G>T GRCh37
NC_000015.8:g.38550786G>T NCBI36
NG_017074.1:g.5335G>T , LRG_600:g.5335G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000306243.7:c.82G>T MANE Select ENSP00000307297.6:p.Gly28Cys
ENST00000306243.6:c.82G>T ENSP00000307297.5:p.Gly28Cys
ENST00000559991.1:c.82G>T ENSP00000453882.1:p.Gly28Cys
NM_130468.3:c.82G>T , LRG_600t1:c.82G>T NP_569735.1:p.Gly28Cys
NM_130468.4:c.82G>T MANE Select NP_569735.1:p.Gly28Cys
Search 100 bp 5'
Search 100 bp 3'