Canonical Allele Identifier: CA2627825193
Gene: CHST14 HGNC NCBI

Linked Data

gnomAD v4: 15-40472541-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40472541C>A , CM000677.2:g.40472541C>A GRCh38
NC_000015.9:g.40764740C>A , CM000677.1:g.40764740C>A GRCh37
NC_000015.8:g.38552032C>A NCBI36
NG_017074.1:g.6581C>A , LRG_600:g.6581C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000306243.7:c.*197C>A MANE Select ENSP00000307297.6:n.*197C>A
ENST00000306243.6:c.*197C>A ENSP00000307297.5:n.*197C>A
ENST00000559991.1:c.*197C>A ENSP00000453882.1:n.*197C>A
NM_130468.3:c.*197C>A , LRG_600t1:c.*197C>A NP_569735.1:n.*197C>A
NM_130468.4:c.*197C>A MANE Select NP_569735.1:n.*197C>A
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