Canonical Allele Identifier: CA489764148
Gene: CHST14 HGNC NCBI

Linked Data

gnomAD v4: 15-40472338-G-A
MyVariant Identifiers: chr15:g.40764537G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40472338G>A , CM000677.2:g.40472338G>A GRCh38
NC_000015.9:g.40764537G>A , CM000677.1:g.40764537G>A GRCh37
NC_000015.8:g.38551829G>A NCBI36
NG_017074.1:g.6378G>A , LRG_600:g.6378G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000306243.7:c.1125G>A MANE Select ENSP00000307297.6:p.Gln375=
ENST00000306243.6:c.1125G>A ENSP00000307297.5:p.Gln375=
ENST00000559991.1:c.1050G>A ENSP00000453882.1:p.Gln350=
NM_130468.3:c.1125G>A , LRG_600t1:c.1125G>A NP_569735.1:p.Gln375=
NM_130468.4:c.1125G>A MANE Select NP_569735.1:p.Gln375=
Search 100 bp 5'
Search 100 bp 3'