Canonical Allele Identifier: CA2627825112
Gene: CHST14 HGNC NCBI

Linked Data

gnomAD v4: 15-40472470-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40472470A>C , CM000677.2:g.40472470A>C GRCh38
NC_000015.9:g.40764669A>C , CM000677.1:g.40764669A>C GRCh37
NC_000015.8:g.38551961A>C NCBI36
NG_017074.1:g.6510A>C , LRG_600:g.6510A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000306243.7:c.*126A>C MANE Select ENSP00000307297.6:n.*126A>C
ENST00000306243.6:c.*126A>C ENSP00000307297.5:n.*126A>C
ENST00000559991.1:c.*126A>C ENSP00000453882.1:n.*126A>C
NM_130468.3:c.*126A>C , LRG_600t1:c.*126A>C NP_569735.1:n.*126A>C
NM_130468.4:c.*126A>C MANE Select NP_569735.1:n.*126A>C
Search 100 bp 5'
Search 100 bp 3'