Canonical Allele Identifier: CA2233372471
Community Standard Title: NM_021615.5(CHST6):c.599T= (p.Leu200=)
Gene: CHST6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.75479230A= , CM000678.2:g.75479230A= GRCh38
NC_000016.9:g.75513128A= , CM000678.1:g.75513128A= GRCh37
NC_000016.8:g.74070629A= NCBI36
NG_016442.1:g.20799T=
NG_016442.2:g.21212T=

Transcript Alleles

HGVS Amino-acid Change
NM_021615.5:c.599T= MANE Select NP_067628.1:p.Leu200=
ENST00000332272.9:c.599T= MANE Select ENSP00000328983.4:p.Leu200=
NM_021615.4:c.599T= NP_067628.1:p.Leu200=
NR_163480.1:n.733+2587T=
NR_163481.1:n.577+2587T=
ENST00000332272.8:c.599T= ENSP00000328983.4:p.Leu200=
ENST00000390664.2:c.599T= ENSP00000375079.2:p.Leu200=
ENST00000390664.3:c.599T= ENSP00000375079.2:p.Leu200=
ENST00000649341.1:c.599T= ENSP00000497635.1:p.Leu200=
ENST00000649824.1:c.599T= ENSP00000496806.1:p.Leu200=
XM_005255955.3:c.599T= XP_005256012.1:p.Leu200=
XM_005255955.5:c.599T= XP_005256012.1:p.Leu200=
XM_011523085.1:c.599T= XP_011521387.1:p.Leu200=
XM_011523085.3:c.599T= XP_011521387.1:p.Leu200=