Canonical Allele Identifier: CA496694114
Gene: CHST6 HGNC NCBI

Linked Data

dbSNP Id: rs1464990881
MyVariant Identifiers: chr16:g.75513166C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.75479268C>A , CM000678.2:g.75479268C>A GRCh38
NC_000016.9:g.75513166C>A , CM000678.1:g.75513166C>A GRCh37
NC_000016.8:g.74070667C>A NCBI36
NG_016442.1:g.20761G>T
NG_016442.2:g.21174G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000332272.9:c.561G>T MANE Select ENSP00000328983.4:p.Leu187=
ENST00000390664.3:c.561G>T ENSP00000375079.2:p.Leu187=
ENST00000649341.1:c.561G>T ENSP00000497635.1:p.Leu187=
ENST00000649824.1:c.561G>T ENSP00000496806.1:p.Leu187=
ENST00000332272.8:c.561G>T ENSP00000328983.4:p.Leu187=
ENST00000390664.2:c.561G>T ENSP00000375079.2:p.Leu187=
NM_021615.4:c.561G>T NP_067628.1:p.Leu187=
XM_005255955.3:c.561G>T XP_005256012.1:p.Leu187=
XM_011523085.1:c.561G>T XP_011521387.1:p.Leu187=
NM_021615.5:c.561G>T MANE Select NP_067628.1:p.Leu187=
XM_005255955.5:c.561G>T XP_005256012.1:p.Leu187=
XM_011523085.3:c.561G>T XP_011521387.1:p.Leu187=
NR_163480.1:n.733+2549G>T
NR_163481.1:n.577+2549G>T