Canonical Allele Identifier: CA396792888
Community Standard Title: NM_021615.5(CHST6):c.379C>T (p.Arg127Cys)
Gene: CHST6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.75479450G>A , CM000678.2:g.75479450G>A GRCh38
NC_000016.9:g.75513348G>A , CM000678.1:g.75513348G>A GRCh37
NC_000016.8:g.74070849G>A NCBI36
NG_016442.1:g.20579C>T
NG_016442.2:g.20992C>T

Transcript Alleles

HGVS Amino-acid Change
NM_021615.5:c.379C>T MANE Select NP_067628.1:p.Arg127Cys
ENST00000332272.9:c.379C>T MANE Select ENSP00000328983.4:p.Arg127Cys
NM_021615.4:c.379C>T NP_067628.1:p.Arg127Cys
NR_163480.1:n.733+2367C>T
NR_163481.1:n.577+2367C>T
ENST00000332272.8:c.379C>T ENSP00000328983.4:p.Arg127Cys
ENST00000390664.2:c.379C>T ENSP00000375079.2:p.Arg127Cys
ENST00000390664.3:c.379C>T ENSP00000375079.2:p.Arg127Cys
ENST00000649341.1:c.379C>T ENSP00000497635.1:p.Arg127Cys
ENST00000649824.1:c.379C>T ENSP00000496806.1:p.Arg127Cys
XM_005255955.3:c.379C>T XP_005256012.1:p.Arg127Cys
XM_005255955.5:c.379C>T XP_005256012.1:p.Arg127Cys
XM_011523085.1:c.379C>T XP_011521387.1:p.Arg127Cys
XM_011523085.3:c.379C>T XP_011521387.1:p.Arg127Cys