Canonical Allele Identifier: CA8175389

Gene: CHST6

Linked Data

• ClinVar Variation Id: 1507306
• ClinVar RCV Id: RCV002009424
• dbSNP Id: rs750027288
• ExAC: 16:75512928 G / A
• gnomAD v2: 16-75512928-G-A
• gnomAD v3: 16-75479030-G-A
• gnomAD v4: 16-75479030-G-A
• MyVariant Identifiers: chr16:g.75512928G>A (hg19) ; chr16:g.75479030G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75479030G>A , CM000678.2:g.75479030G>A	GRCh38
NC_000016.9:g.75512928G>A , CM000678.1:g.75512928G>A	GRCh37
NC_000016.8:g.74070429G>A	NCBI36
NG_016442.1:g.20999C>T
NG_016442.2:g.21412C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332272.9:c.799C>T MANE Select	ENSP00000328983.4:p.Arg267Cys
ENST00000390664.3:c.799C>T	ENSP00000375079.2:p.Arg267Cys
ENST00000649341.1:c.799C>T	ENSP00000497635.1:p.Arg267Cys
ENST00000649824.1:c.799C>T	ENSP00000496806.1:p.Arg267Cys
ENST00000332272.8:c.799C>T	ENSP00000328983.4:p.Arg267Cys
ENST00000390664.2:c.799C>T	ENSP00000375079.2:p.Arg267Cys
NM_021615.4:c.799C>T	NP_067628.1:p.Arg267Cys
XM_005255955.3:c.799C>T	XP_005256012.1:p.Arg267Cys
XM_011523085.1:c.799C>T	XP_011521387.1:p.Arg267Cys
NM_021615.5:c.799C>T MANE Select	NP_067628.1:p.Arg267Cys
XM_005255955.5:c.799C>T	XP_005256012.1:p.Arg267Cys
XM_011523085.3:c.799C>T	XP_011521387.1:p.Arg267Cys
NR_163480.1:n.733+2787C>T
NR_163481.1:n.577+2787C>T