Canonical Allele Identifier: CA2627825212
Gene: CHST14 HGNC NCBI

Linked Data

gnomAD v4: 15-40472555-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40472555T>G , CM000677.2:g.40472555T>G GRCh38
NC_000015.9:g.40764754T>G , CM000677.1:g.40764754T>G GRCh37
NC_000015.8:g.38552046T>G NCBI36
NG_017074.1:g.6595T>G , LRG_600:g.6595T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000306243.7:c.*211T>G MANE Select ENSP00000307297.6:n.*211T>G
ENST00000306243.6:c.*211T>G ENSP00000307297.5:n.*211T>G
ENST00000559991.1:c.*211T>G ENSP00000453882.1:n.*211T>G
NM_130468.3:c.*211T>G , LRG_600t1:c.*211T>G NP_569735.1:n.*211T>G
NM_130468.4:c.*211T>G MANE Select NP_569735.1:n.*211T>G
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