Canonical Allele Identifier: CA2627825074
Gene: CHST14 HGNC NCBI

Linked Data

gnomAD v4: 15-40472427-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40472427T>C , CM000677.2:g.40472427T>C GRCh38
NC_000015.9:g.40764626T>C , CM000677.1:g.40764626T>C GRCh37
NC_000015.8:g.38551918T>C NCBI36
NG_017074.1:g.6467T>C , LRG_600:g.6467T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000306243.7:c.*83T>C MANE Select ENSP00000307297.6:n.*83T>C
ENST00000306243.6:c.*83T>C ENSP00000307297.5:n.*83T>C
ENST00000559991.1:c.*83T>C ENSP00000453882.1:n.*83T>C
NM_130468.3:c.*83T>C , LRG_600t1:c.*83T>C NP_569735.1:n.*83T>C
NM_130468.4:c.*83T>C MANE Select NP_569735.1:n.*83T>C
Search 100 bp 5'
Search 100 bp 3'