Canonical Allele Identifier: CA8175529

Gene: CHST6

Linked Data

• ClinVar Variation Id: 2020758
• ClinVar RCV Id: RCV002866159
• dbSNP Id: rs368924788
• ExAC: 16:75513404 T / A
• gnomAD v2: 16-75513404-T-A
• gnomAD v3: 16-75479506-T-A
• gnomAD v4: 16-75479506-T-A
• MyVariant Identifiers: chr16:g.75513404T>A (hg19) ; chr16:g.75479506T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75479506T>A , CM000678.2:g.75479506T>A	GRCh38
NC_000016.9:g.75513404T>A , CM000678.1:g.75513404T>A	GRCh37
NC_000016.8:g.74070905T>A	NCBI36
NG_016442.1:g.20523A>T
NG_016442.2:g.20936A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000332272.9:c.323A>T MANE Select	ENSP00000328983.4:p.Asp108Val
ENST00000390664.3:c.323A>T	ENSP00000375079.2:p.Asp108Val
ENST00000649341.1:c.323A>T	ENSP00000497635.1:p.Asp108Val
ENST00000649824.1:c.323A>T	ENSP00000496806.1:p.Asp108Val
ENST00000332272.8:c.323A>T	ENSP00000328983.4:p.Asp108Val
ENST00000390664.2:c.323A>T	ENSP00000375079.2:p.Asp108Val
NM_021615.4:c.323A>T	NP_067628.1:p.Asp108Val
XM_005255955.3:c.323A>T	XP_005256012.1:p.Asp108Val
XM_011523085.1:c.323A>T	XP_011521387.1:p.Asp108Val
NM_021615.5:c.323A>T MANE Select	NP_067628.1:p.Asp108Val
XM_005255955.5:c.323A>T	XP_005256012.1:p.Asp108Val
XM_011523085.3:c.323A>T	XP_011521387.1:p.Asp108Val
NR_163480.1:n.733+2311A>T
NR_163481.1:n.577+2311A>T