Canonical Allele Identifier: CA396790174

Gene: CHST6

Linked Data

• ClinVar Variation Id: 2221834
• ClinVar RCV Id: RCV002706894
• dbSNP Id: rs1597472547
• gnomAD v4: 16-75479099-C-T
• MyVariant Identifiers: chr16:g.75512997C>T (hg19) ; chr16:g.75479099C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75479099C>T , CM000678.2:g.75479099C>T	GRCh38
NC_000016.9:g.75512997C>T , CM000678.1:g.75512997C>T	GRCh37
NC_000016.8:g.74070498C>T	NCBI36
NG_016442.1:g.20930G>A
NG_016442.2:g.21343G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332272.9:c.730G>A MANE Select	ENSP00000328983.4:p.Glu244Lys
ENST00000390664.3:c.730G>A	ENSP00000375079.2:p.Glu244Lys
ENST00000649341.1:c.730G>A	ENSP00000497635.1:p.Glu244Lys
ENST00000649824.1:c.730G>A	ENSP00000496806.1:p.Glu244Lys
ENST00000332272.8:c.730G>A	ENSP00000328983.4:p.Glu244Lys
ENST00000390664.2:c.730G>A	ENSP00000375079.2:p.Glu244Lys
NM_021615.4:c.730G>A	NP_067628.1:p.Glu244Lys
XM_005255955.3:c.730G>A	XP_005256012.1:p.Glu244Lys
XM_011523085.1:c.730G>A	XP_011521387.1:p.Glu244Lys
NM_021615.5:c.730G>A MANE Select	NP_067628.1:p.Glu244Lys
XM_005255955.5:c.730G>A	XP_005256012.1:p.Glu244Lys
XM_011523085.3:c.730G>A	XP_011521387.1:p.Glu244Lys
NR_163480.1:n.733+2718G>A
NR_163481.1:n.577+2718G>A