Canonical Allele Identifier: CA377150946
Gene: CHST3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1421512
ClinVar RCV Id: RCV001916951
dbSNP Id: rs1355385307
gnomAD v4: 10-72008140-G-A
MyVariant Identifiers: chr10:g.73767898G>A (hg19) chr10:g.72008140G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.72008140G>A , CM000672.2:g.72008140G>A GRCh38
NC_000010.10:g.73767898G>A , CM000672.1:g.73767898G>A GRCh37
NC_000010.9:g.73437904G>A NCBI36
NG_012635.1:g.48779G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373115.5:c.1109G>A MANE Select ENSP00000362207.4:p.Arg370His
ENST00000373115.4:c.1109G>A ENSP00000362207.4:p.Arg370His
NM_004273.4:c.1109G>A NP_004264.2:p.Arg370His
XM_006718075.2:c.1109G>A XP_006718138.1:p.Arg370His
XM_011540369.1:c.1109G>A XP_011538671.1:p.Arg370His
XM_006718075.4:c.1109G>A XP_006718138.1:p.Arg370His
XM_011540369.2:c.1109G>A XP_011538671.1:p.Arg370His
NM_004273.5:c.1109G>A MANE Select NP_004264.2:p.Arg370His
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