Canonical Allele Identifier: CA489975492
Gene: CHST14 HGNC NCBI

Linked Data

gnomAD v4: 15-40472296-C-A
MyVariant Identifiers: chr15:g.40764495C>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40472296C>A , CM000677.2:g.40472296C>A GRCh38
NC_000015.9:g.40764495C>A , CM000677.1:g.40764495C>A GRCh37
NC_000015.8:g.38551787C>A NCBI36
NG_017074.1:g.6336C>A , LRG_600:g.6336C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000306243.7:c.1083C>A MANE Select ENSP00000307297.6:p.Leu361=
ENST00000306243.6:c.1083C>A ENSP00000307297.5:p.Leu361=
ENST00000559991.1:c.1008C>A ENSP00000453882.1:p.Leu336=
NM_130468.3:c.1083C>A , LRG_600t1:c.1083C>A NP_569735.1:p.Leu361=
NM_130468.4:c.1083C>A MANE Select NP_569735.1:p.Leu361=
Search 100 bp 5'
Search 100 bp 3'