Canonical Allele Identifier: CA202345
Gene: CHST3 HGNC NCBI

Linked Data

ClinVar Variation Id: 196377
ClinVar RCV Id: RCV000177193 RCV000956836 RCV002288781 RCV002485155
dbSNP Id: rs115579748
ExAC: 10:73767962 C / A
gnomAD v2: 10-73767962-C-A
gnomAD v3: 10-72008204-C-A
gnomAD v4: 10-72008204-C-A
MyVariant Identifiers: chr10:g.73767962C>A (hg19) chr10:g.72008204C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.72008204C>A , CM000672.2:g.72008204C>A GRCh38
NC_000010.10:g.73767962C>A , CM000672.1:g.73767962C>A GRCh37
NC_000010.9:g.73437968C>A NCBI36
NG_012635.1:g.48843C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373115.5:c.1173C>A MANE Select ENSP00000362207.4:p.Ile391=
ENST00000373115.4:c.1173C>A ENSP00000362207.4:p.Ile391=
NM_004273.4:c.1173C>A NP_004264.2:p.Ile391=
XM_006718075.2:c.1173C>A XP_006718138.1:p.Ile391=
XM_011540369.1:c.1173C>A XP_011538671.1:p.Ile391=
XM_006718075.4:c.1173C>A XP_006718138.1:p.Ile391=
XM_011540369.2:c.1173C>A XP_011538671.1:p.Ile391=
NM_004273.5:c.1173C>A MANE Select NP_004264.2:p.Ile391=
Search 100 bp 5'
Search 100 bp 3'