Canonical Allele Identifier: CA396790052
Gene: CHST6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.75479072C>G , CM000678.2:g.75479072C>G GRCh38
NC_000016.9:g.75512970C>G , CM000678.1:g.75512970C>G GRCh37
NC_000016.8:g.74070471C>G NCBI36
NG_016442.1:g.20957G>C
NG_016442.2:g.21370G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000332272.9:c.757G>C MANE Select ENSP00000328983.4:p.Ala253Pro
ENST00000390664.3:c.757G>C ENSP00000375079.2:p.Ala253Pro
ENST00000649341.1:c.757G>C ENSP00000497635.1:p.Ala253Pro
ENST00000649824.1:c.757G>C ENSP00000496806.1:p.Ala253Pro
ENST00000332272.8:c.757G>C ENSP00000328983.4:p.Ala253Pro
ENST00000390664.2:c.757G>C ENSP00000375079.2:p.Ala253Pro
NM_021615.4:c.757G>C NP_067628.1:p.Ala253Pro
XM_005255955.3:c.757G>C XP_005256012.1:p.Ala253Pro
XM_011523085.1:c.757G>C XP_011521387.1:p.Ala253Pro
NM_021615.5:c.757G>C MANE Select NP_067628.1:p.Ala253Pro
XM_005255955.5:c.757G>C XP_005256012.1:p.Ala253Pro
XM_011523085.3:c.757G>C XP_011521387.1:p.Ala253Pro
NR_163480.1:n.733+2745G>C
NR_163481.1:n.577+2745G>C