Canonical Allele Identifier: CA2582342678
Gene: CHST3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2585014
ClinVar RCV Id: RCV003340914

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.72007978del , CM000672.2:g.72007978del GRCh38
NC_000010.10:g.73767736del , CM000672.1:g.73767736del GRCh37
NC_000010.9:g.73437742del NCBI36
NG_012635.1:g.48617del

Transcript Alleles

HGVS Amino-acid Change
ENST00000373115.5:c.947del MANE Select ENSP00000362207.4:p.Gly316AlafsTer18
ENST00000373115.4:c.947del ENSP00000362207.4:p.Gly316AlafsTer18
NM_004273.4:c.947del NP_004264.2:p.Gly316AlafsTer18
XM_006718075.2:c.947del XP_006718138.1:p.Gly316AlafsTer18
XM_011540369.1:c.947del XP_011538671.1:p.Gly316AlafsTer18
XM_006718075.4:c.947del XP_006718138.1:p.Gly316AlafsTer18
XM_011540369.2:c.947del XP_011538671.1:p.Gly316AlafsTer18
NM_004273.5:c.947del MANE Select NP_004264.2:p.Gly316AlafsTer18