Canonical Allele Identifier: CA377145805
Gene: CHST3 HGNC NCBI

Linked Data

ClinVar Variation Id: 522921
ClinVar RCV Id: RCV000626117 RCV003343955
dbSNP Id: rs1554817549
gnomAD v4: 10-72007711-C-G
MyVariant Identifiers: chr10:g.73767469C>G (hg19) chr10:g.72007711C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.72007711C>G , CM000672.2:g.72007711C>G GRCh38
NC_000010.10:g.73767469C>G , CM000672.1:g.73767469C>G GRCh37
NC_000010.9:g.73437475C>G NCBI36
NG_012635.1:g.48350C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000373115.5:c.680C>G MANE Select ENSP00000362207.4:p.Ser227Cys
ENST00000373115.4:c.680C>G ENSP00000362207.4:p.Ser227Cys
NM_004273.4:c.680C>G NP_004264.2:p.Ser227Cys
XM_006718075.2:c.680C>G XP_006718138.1:p.Ser227Cys
XM_011540369.1:c.680C>G XP_011538671.1:p.Ser227Cys
XM_006718075.4:c.680C>G XP_006718138.1:p.Ser227Cys
XM_011540369.2:c.680C>G XP_011538671.1:p.Ser227Cys
NM_004273.5:c.680C>G MANE Select NP_004264.2:p.Ser227Cys
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