Canonical Allele Identifier: CA712724040
Gene: CHST14 HGNC NCBI

Linked Data

dbSNP Id: rs1186936477
gnomAD v4: 15-40472484-T-C
MyVariant Identifiers: chr15:g.40764683T>C (hg19) chr15:g.40472484T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40472484T>C , CM000677.2:g.40472484T>C GRCh38
NC_000015.9:g.40764683T>C , CM000677.1:g.40764683T>C GRCh37
NC_000015.8:g.38551975T>C NCBI36
NG_017074.1:g.6524T>C , LRG_600:g.6524T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000306243.7:c.*140T>C MANE Select ENSP00000307297.6:n.*140T>C
ENST00000306243.6:c.*140T>C ENSP00000307297.5:n.*140T>C
ENST00000559991.1:c.*140T>C ENSP00000453882.1:n.*140T>C
NM_130468.3:c.*140T>C , LRG_600t1:c.*140T>C NP_569735.1:n.*140T>C
NM_130468.4:c.*140T>C MANE Select NP_569735.1:n.*140T>C
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