Canonical Allele Identifier: CA10632131
Gene: CHST3 HGNC NCBI

Linked Data

ClinVar Variation Id: 300648
ClinVar RCV Id: RCV000309797 RCV000357611 RCV000395460 RCV000395464
dbSNP Id: rs185581202
gnomAD v2: 10-73771674-G-A
gnomAD v3: 10-72011916-G-A
gnomAD v4: 10-72011916-G-A
MyVariant Identifiers: chr10:g.73771674G>A (hg19) chr10:g.72011916G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.72011916G>A , CM000672.2:g.72011916G>A GRCh38
NC_000010.10:g.73771674G>A , CM000672.1:g.73771674G>A GRCh37
NC_000010.9:g.73441680G>A NCBI36
NG_012635.1:g.52555G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373115.5:c.*3445G>A MANE Select ENSP00000362207.4:n.*3445G>A
ENST00000373115.4:c.*3445G>A ENSP00000362207.4:n.*3445G>A
NM_004273.4:c.*3445G>A NP_004264.2:n.*3445G>A
XM_006718075.2:c.*3445G>A XP_006718138.1:n.*3445G>A
XM_011540369.1:c.*3445G>A XP_011538671.1:n.*3445G>A
XM_006718075.4:c.*3445G>A XP_006718138.1:n.*3445G>A
XM_011540369.2:c.*3445G>A XP_011538671.1:n.*3445G>A
NM_004273.5:c.*3445G>A MANE Select NP_004264.2:n.*3445G>A
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