Canonical Allele Identifier: CA2627825234
Gene: CHST14 HGNC NCBI

Linked Data

gnomAD v4: 15-40472570-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40472570G>C , CM000677.2:g.40472570G>C GRCh38
NC_000015.9:g.40764769G>C , CM000677.1:g.40764769G>C GRCh37
NC_000015.8:g.38552061G>C NCBI36
NG_017074.1:g.6610G>C , LRG_600:g.6610G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000306243.7:c.*226G>C MANE Select ENSP00000307297.6:n.*226G>C
ENST00000306243.6:c.*226G>C ENSP00000307297.5:n.*226G>C
ENST00000559991.1:c.*226G>C ENSP00000453882.1:n.*226G>C
NM_130468.3:c.*226G>C , LRG_600t1:c.*226G>C NP_569735.1:n.*226G>C
NM_130468.4:c.*226G>C MANE Select NP_569735.1:n.*226G>C
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