Canonical Allele Identifier: CA2627825192
Gene: CHST14 HGNC NCBI

Linked Data

gnomAD v4: 15-40472540-C-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40472540C>G , CM000677.2:g.40472540C>G GRCh38
NC_000015.9:g.40764739C>G , CM000677.1:g.40764739C>G GRCh37
NC_000015.8:g.38552031C>G NCBI36
NG_017074.1:g.6580C>G , LRG_600:g.6580C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000306243.7:c.*196C>G MANE Select ENSP00000307297.6:n.*196C>G
ENST00000306243.6:c.*196C>G ENSP00000307297.5:n.*196C>G
ENST00000559991.1:c.*196C>G ENSP00000453882.1:n.*196C>G
NM_130468.3:c.*196C>G , LRG_600t1:c.*196C>G NP_569735.1:n.*196C>G
NM_130468.4:c.*196C>G MANE Select NP_569735.1:n.*196C>G
Search 100 bp 5'
Search 100 bp 3'