Canonical Allele Identifier: CA2171795571
Gene: CHST14 HGNC NCBI

Linked Data

dbSNP Id: rs1595869857
gnomAD v4: 15-40472537-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40472537A>G , CM000677.2:g.40472537A>G GRCh38
NC_000015.9:g.40764736A>G , CM000677.1:g.40764736A>G GRCh37
NC_000015.8:g.38552028A>G NCBI36
NG_017074.1:g.6577A>G , LRG_600:g.6577A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000306243.7:c.*193A>G MANE Select ENSP00000307297.6:n.*193A>G
ENST00000306243.6:c.*193A>G ENSP00000307297.5:n.*193A>G
ENST00000559991.1:c.*193A>G ENSP00000453882.1:n.*193A>G
NM_130468.3:c.*193A>G , LRG_600t1:c.*193A>G NP_569735.1:n.*193A>G
NM_130468.4:c.*193A>G MANE Select NP_569735.1:n.*193A>G
Search 100 bp 5'
Search 100 bp 3'