Canonical Allele Identifier: CA396789309

Gene: CHST6

Linked Data

• ClinVar Variation Id: 2333267
• ClinVar RCV Id: RCV002930737
• dbSNP Id: rs2080100016
• gnomAD v4: 16-75478924-C-G
• MyVariant Identifiers: chr16:g.75512822C>G (hg19) ; chr16:g.75478924C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75478924C>G , CM000678.2:g.75478924C>G	GRCh38
NC_000016.9:g.75512822C>G , CM000678.1:g.75512822C>G	GRCh37
NC_000016.8:g.74070323C>G	NCBI36
NG_016442.1:g.21105G>C
NG_016442.2:g.21518G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332272.9:c.905G>C MANE Select	ENSP00000328983.4:p.Trp302Ser
ENST00000390664.3:c.905G>C	ENSP00000375079.2:p.Trp302Ser
ENST00000649341.1:c.905G>C	ENSP00000497635.1:p.Trp302Ser
ENST00000649824.1:c.905G>C	ENSP00000496806.1:p.Trp302Ser
ENST00000332272.8:c.905G>C	ENSP00000328983.4:p.Trp302Ser
ENST00000390664.2:c.905G>C	ENSP00000375079.2:p.Trp302Ser
NM_021615.4:c.905G>C	NP_067628.1:p.Trp302Ser
XM_005255955.3:c.905G>C	XP_005256012.1:p.Trp302Ser
XM_011523085.1:c.905G>C	XP_011521387.1:p.Trp302Ser
NM_021615.5:c.905G>C MANE Select	NP_067628.1:p.Trp302Ser
XM_005255955.5:c.905G>C	XP_005256012.1:p.Trp302Ser
XM_011523085.3:c.905G>C	XP_011521387.1:p.Trp302Ser
NR_163480.1:n.733+2893G>C
NR_163481.1:n.577+2893G>C