Canonical Allele Identifier: CA8175381

Gene: CHST6

Linked Data

• ClinVar Variation Id: 2577142
• ClinVar RCV Id: RCV003324219
• dbSNP Id: rs745966069
• ExAC: 16:75512912 C / T
• gnomAD v2: 16-75512912-C-T
• gnomAD v3: 16-75479014-C-T
• gnomAD v4: 16-75479014-C-T
• COSMIC: COSM4672363
• MyVariant Identifiers: chr16:g.75512912C>T (hg19) ; chr16:g.75479014C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75479014C>T , CM000678.2:g.75479014C>T	GRCh38
NC_000016.9:g.75512912C>T , CM000678.1:g.75512912C>T	GRCh37
NC_000016.8:g.74070413C>T	NCBI36
NG_016442.1:g.21015G>A
NG_016442.2:g.21428G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000332272.9:c.815G>A MANE Select	ENSP00000328983.4:p.Arg272His
ENST00000390664.3:c.815G>A	ENSP00000375079.2:p.Arg272His
ENST00000649341.1:c.815G>A	ENSP00000497635.1:p.Arg272His
ENST00000649824.1:c.815G>A	ENSP00000496806.1:p.Arg272His
ENST00000332272.8:c.815G>A	ENSP00000328983.4:p.Arg272His
ENST00000390664.2:c.815G>A	ENSP00000375079.2:p.Arg272His
NM_021615.4:c.815G>A	NP_067628.1:p.Arg272His
XM_005255955.3:c.815G>A	XP_005256012.1:p.Arg272His
XM_011523085.1:c.815G>A	XP_011521387.1:p.Arg272His
NM_021615.5:c.815G>A MANE Select	NP_067628.1:p.Arg272His
XM_005255955.5:c.815G>A	XP_005256012.1:p.Arg272His
XM_011523085.3:c.815G>A	XP_011521387.1:p.Arg272His
NR_163480.1:n.733+2803G>A
NR_163481.1:n.577+2803G>A