Canonical Allele Identifier: CA2627825233
Gene: CHST14 HGNC NCBI

Linked Data

gnomAD v4: 15-40472569-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40472569G>T , CM000677.2:g.40472569G>T GRCh38
NC_000015.9:g.40764768G>T , CM000677.1:g.40764768G>T GRCh37
NC_000015.8:g.38552060G>T NCBI36
NG_017074.1:g.6609G>T , LRG_600:g.6609G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000306243.7:c.*225G>T MANE Select ENSP00000307297.6:n.*225G>T
ENST00000306243.6:c.*225G>T ENSP00000307297.5:n.*225G>T
ENST00000559991.1:c.*225G>T ENSP00000453882.1:n.*225G>T
NM_130468.3:c.*225G>T , LRG_600t1:c.*225G>T NP_569735.1:n.*225G>T
NM_130468.4:c.*225G>T MANE Select NP_569735.1:n.*225G>T
Search 100 bp 5'
Search 100 bp 3'