Canonical Allele Identifier: CA396789046
Community Standard Title: NM_021615.5(CHST6):c.997T>A (p.Trp333Arg)
Gene: CHST6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.75478832A>T , CM000678.2:g.75478832A>T GRCh38
NC_000016.9:g.75512730A>T , CM000678.1:g.75512730A>T GRCh37
NC_000016.8:g.74070231A>T NCBI36
NG_016442.1:g.21197T>A
NG_016442.2:g.21610T>A

Transcript Alleles

HGVS Amino-acid Change
NM_021615.5:c.997T>A MANE Select NP_067628.1:p.Trp333Arg
ENST00000332272.9:c.997T>A MANE Select ENSP00000328983.4:p.Trp333Arg
NM_021615.4:c.997T>A NP_067628.1:p.Trp333Arg
NR_163480.1:n.733+2985T>A
NR_163481.1:n.577+2985T>A
ENST00000332272.8:c.997T>A ENSP00000328983.4:p.Trp333Arg
ENST00000390664.2:c.997T>A ENSP00000375079.2:p.Trp333Arg
ENST00000390664.3:c.997T>A ENSP00000375079.2:p.Trp333Arg
ENST00000649341.1:c.997T>A ENSP00000497635.1:p.Trp333Arg
ENST00000649824.1:c.997T>A ENSP00000496806.1:p.Trp333Arg
XM_005255955.3:c.997T>A XP_005256012.1:p.Trp333Arg
XM_005255955.5:c.997T>A XP_005256012.1:p.Trp333Arg
XM_011523085.1:c.997T>A XP_011521387.1:p.Trp333Arg
XM_011523085.3:c.997T>A XP_011521387.1:p.Trp333Arg