Canonical Allele Identifier: CA594706448
Gene: CHST3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1454776
ClinVar RCV Id: RCV001942043
dbSNP Id: rs1564532377
gnomAD v2: 10-73767547-GC-G
gnomAD v4: 10-72007789-GC-G
MyVariant Identifiers: chr10:g.73767548del (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.72007794del , CM000672.2:g.72007794del GRCh38
NC_000010.10:g.73767552del , CM000672.1:g.73767552del GRCh37
NC_000010.9:g.73437558del NCBI36
NG_012635.1:g.48433del

Transcript Alleles

HGVS Amino-acid Change
ENST00000373115.5:c.763del MANE Select ENSP00000362207.4:p.Leu255SerfsTer3
ENST00000373115.4:c.763del ENSP00000362207.4:p.Leu255SerfsTer3
NM_004273.4:c.763del NP_004264.2:p.Leu255SerfsTer3
XM_006718075.2:c.763del XP_006718138.1:p.Leu255SerfsTer3
XM_011540369.1:c.763del XP_011538671.1:p.Leu255SerfsTer3
XM_006718075.4:c.763del XP_006718138.1:p.Leu255SerfsTer3
XM_011540369.2:c.763del XP_011538671.1:p.Leu255SerfsTer3
NM_004273.5:c.763del MANE Select NP_004264.2:p.Leu255SerfsTer3
Search 100 bp 5'
Search 100 bp 3'