Canonical Allele Identifier: CA10604626
Gene: CHST3 HGNC NCBI

Linked Data

ClinVar Variation Id: 283922
ClinVar RCV Id: RCV000269008
dbSNP Id: rs886042739
gnomAD v4: 10-72008222-G-A
MyVariant Identifiers: chr10:g.73767980G>A (hg19) chr10:g.72008222G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.72008222G>A , CM000672.2:g.72008222G>A GRCh38
NC_000010.10:g.73767980G>A , CM000672.1:g.73767980G>A GRCh37
NC_000010.9:g.73437986G>A NCBI36
NG_012635.1:g.48861G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373115.5:c.1191G>A MANE Select ENSP00000362207.4:p.Val397=
ENST00000373115.4:c.1191G>A ENSP00000362207.4:p.Val397=
NM_004273.4:c.1191G>A NP_004264.2:p.Val397=
XM_006718075.2:c.1191G>A XP_006718138.1:p.Val397=
XM_011540369.1:c.1191G>A XP_011538671.1:p.Val397=
XM_006718075.4:c.1191G>A XP_006718138.1:p.Val397=
XM_011540369.2:c.1191G>A XP_011538671.1:p.Val397=
NM_004273.5:c.1191G>A MANE Select NP_004264.2:p.Val397=
Search 100 bp 5'
Search 100 bp 3'