Canonical Allele Identifier: CA396790130

Gene: CHST6

Linked Data

• dbSNP Id: rs1419569901
• gnomAD v2: 16-75512989-G-C
• gnomAD v3: 16-75479091-G-C
• gnomAD v4: 16-75479091-G-C
• MyVariant Identifiers: chr16:g.75512989G>C (hg19) ; chr16:g.75479091G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75479091G>C , CM000678.2:g.75479091G>C	GRCh38
NC_000016.9:g.75512989G>C , CM000678.1:g.75512989G>C	GRCh37
NC_000016.8:g.74070490G>C	NCBI36
NG_016442.1:g.20938C>G
NG_016442.2:g.21351C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332272.9:c.738C>G MANE Select	ENSP00000328983.4:p.Cys246Trp
ENST00000390664.3:c.738C>G	ENSP00000375079.2:p.Cys246Trp
ENST00000649341.1:c.738C>G	ENSP00000497635.1:p.Cys246Trp
ENST00000649824.1:c.738C>G	ENSP00000496806.1:p.Cys246Trp
ENST00000332272.8:c.738C>G	ENSP00000328983.4:p.Cys246Trp
ENST00000390664.2:c.738C>G	ENSP00000375079.2:p.Cys246Trp
NM_021615.4:c.738C>G	NP_067628.1:p.Cys246Trp
XM_005255955.3:c.738C>G	XP_005256012.1:p.Cys246Trp
XM_011523085.1:c.738C>G	XP_011521387.1:p.Cys246Trp
NM_021615.5:c.738C>G MANE Select	NP_067628.1:p.Cys246Trp
XM_005255955.5:c.738C>G	XP_005256012.1:p.Cys246Trp
XM_011523085.3:c.738C>G	XP_011521387.1:p.Cys246Trp
NR_163480.1:n.733+2726C>G
NR_163481.1:n.577+2726C>G