Canonical Allele Identifier: CA489975519
Gene: CHST14 HGNC NCBI

Linked Data

dbSNP Id: rs1894362769
MyVariant Identifiers: chr15:g.40764525G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40472326G>A , CM000677.2:g.40472326G>A GRCh38
NC_000015.9:g.40764525G>A , CM000677.1:g.40764525G>A GRCh37
NC_000015.8:g.38551817G>A NCBI36
NG_017074.1:g.6366G>A , LRG_600:g.6366G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000306243.7:c.1113G>A MANE Select ENSP00000307297.6:p.Lys371=
ENST00000306243.6:c.1113G>A ENSP00000307297.5:p.Lys371=
ENST00000559991.1:c.1038G>A ENSP00000453882.1:p.Lys346=
NM_130468.3:c.1113G>A , LRG_600t1:c.1113G>A NP_569735.1:p.Lys371=
NM_130468.4:c.1113G>A MANE Select NP_569735.1:p.Lys371=