Canonical Allele Identifier: CA253729
Gene: CHST3 HGNC NCBI

Linked Data

ClinVar Variation Id: 6046
ClinVar RCV Id: RCV000006418
dbSNP Id: rs121908619

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.72007634C>A , CM000672.2:g.72007634C>A GRCh38
NC_000010.10:g.73767392C>A , CM000672.1:g.73767392C>A GRCh37
NC_000010.9:g.73437398C>A NCBI36
NG_012635.1:g.48273C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373115.5:c.603C>A MANE Select ENSP00000362207.4:p.Tyr201Ter
ENST00000373115.4:c.603C>A ENSP00000362207.4:p.Tyr201Ter
NM_004273.4:c.603C>A NP_004264.2:p.Tyr201Ter
XM_006718075.2:c.603C>A XP_006718138.1:p.Tyr201Ter
XM_011540369.1:c.603C>A XP_011538671.1:p.Tyr201Ter
XM_006718075.4:c.603C>A XP_006718138.1:p.Tyr201Ter
XM_011540369.2:c.603C>A XP_011538671.1:p.Tyr201Ter
NM_004273.5:c.603C>A MANE Select NP_004264.2:p.Tyr201Ter