Canonical Allele Identifier: CA117249

Gene: CHST6

Linked Data

• ClinVar Variation Id: 5075
• ClinVar RCV Id: RCV000005380 ; RCV000005379 ; RCV001091757
• dbSNP Id: rs28937879
• ExAC: 16:75513128 A / C
• gnomAD v2: 16-75513128-A-C
• gnomAD v3: 16-75479230-A-C
• gnomAD v4: 16-75479230-A-C
• MyVariant Identifiers: chr16:g.75513128A>C (hg19) ; chr16:g.75479230A>C (hg38)
• PubMed: PMID:15013869

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75479230A>C , CM000678.2:g.75479230A>C	GRCh38
NC_000016.9:g.75513128A>C , CM000678.1:g.75513128A>C	GRCh37
NC_000016.8:g.74070629A>C	NCBI36
NG_016442.1:g.20799T>G
NG_016442.2:g.21212T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332272.9:c.599T>G MANE Select	ENSP00000328983.4:p.Leu200Arg
ENST00000390664.3:c.599T>G	ENSP00000375079.2:p.Leu200Arg
ENST00000649341.1:c.599T>G	ENSP00000497635.1:p.Leu200Arg
ENST00000649824.1:c.599T>G	ENSP00000496806.1:p.Leu200Arg
ENST00000332272.8:c.599T>G	ENSP00000328983.4:p.Leu200Arg
ENST00000390664.2:c.599T>G	ENSP00000375079.2:p.Leu200Arg
NM_021615.4:c.599T>G	NP_067628.1:p.Leu200Arg
XM_005255955.3:c.599T>G	XP_005256012.1:p.Leu200Arg
XM_011523085.1:c.599T>G	XP_011521387.1:p.Leu200Arg
NM_021615.5:c.599T>G MANE Select	NP_067628.1:p.Leu200Arg
XM_005255955.5:c.599T>G	XP_005256012.1:p.Leu200Arg
XM_011523085.3:c.599T>G	XP_011521387.1:p.Leu200Arg
NR_163480.1:n.733+2587T>G
NR_163481.1:n.577+2587T>G