Canonical Allele Identifier: CA283851165
Gene: CHST6 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.75476191G>C
GRCh37 chr16:g.75510089G>C
gnomAD v2:
16:75510089 G / C
gnomAD v3:
16:75476191 G / C
gnomAD v4:
chr16-75476191-G-C
Joint Max Group AF 0.00012901 (AMR)
Genomes Max Group AF 0.00012901 (AMR)
ClinVar RCV:
RCV001116252
ClinVar Variation:
884931
dbSNP:
769668563
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.75476191G>C , CM000678.2:g.75476191G>C GRCh38
NC_000016.9:g.75510089G>C , CM000678.1:g.75510089G>C GRCh37
NC_000016.8:g.74067590G>C NCBI36
NG_016442.1:g.23838C>G
NG_016442.2:g.24251C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000332272.9:c.*2450C>G MANE Select ENSP00000328983.4:n.*2450C>G
ENST00000649341.1:c.*108+2342C>G ENSP00000497635.1:n.*108+2342C>G
ENST00000649824.1:c.*557+1893C>G ENSP00000496806.1:n.*557+1893C>G
ENST00000332272.8:c.*2450C>G ENSP00000328983.4:n.*2450C>G
NM_021615.4:c.*2450C>G NP_067628.1:n.*2450C>G
NM_021615.5:c.*2450C>G MANE Select NP_067628.1:n.*2450C>G
NR_163480.1:n.734-2724C>G
NR_163481.1:n.578-2724C>G
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