Canonical Allele Identifier: CA283848533
Gene: CHST6 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.75473630C>T
GRCh37 chr16:g.75507528C>T
gnomAD v2:
16:75507528 C / T
gnomAD v3:
16:75473630 C / T
gnomAD v4:
chr16-75473630-C-T
Joint Max Group AF 0.0002602 (AMR)
Genomes Max Group AF 0.0002602 (AMR)
ClinVar RCV:
RCV001120957
ClinVar Variation:
887933
dbSNP:
540453877
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.75473630C>T , CM000678.2:g.75473630C>T GRCh38
NC_000016.9:g.75507528C>T , CM000678.1:g.75507528C>T GRCh37
NC_000016.8:g.74065029C>T NCBI36
NG_016442.1:g.26399G>A
NG_016442.2:g.26812G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000332272.9:c.*5011G>A MANE Select ENSP00000328983.4:n.*5011G>A
ENST00000649341.1:c.*109-163G>A ENSP00000497635.1:n.*109-163G>A
ENST00000649824.1:c.*558-122G>A ENSP00000496806.1:n.*558-122G>A
ENST00000332272.8:c.*5011G>A ENSP00000328983.4:n.*5011G>A
NM_021615.4:c.*5011G>A NP_067628.1:n.*5011G>A
NM_021615.5:c.*5011G>A MANE Select NP_067628.1:n.*5011G>A
NR_163480.1:n.734-163G>A
NR_163481.1:n.578-163G>A
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