Canonical Allele Identifier: CA250518
Gene: CHST6 HGNC NCBI

Linked Data

ClinVar Variation Id: 5071
ClinVar RCV Id: RCV000005375
dbSNP Id: rs28937877

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.75479308T>C , CM000678.2:g.75479308T>C GRCh38
NC_000016.9:g.75513206T>C , CM000678.1:g.75513206T>C GRCh37
NC_000016.8:g.74070707T>C NCBI36
NG_016442.1:g.20721A>G
NG_016442.2:g.21134A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000332272.9:c.521A>G MANE Select ENSP00000328983.4:p.Lys174Arg
ENST00000390664.3:c.521A>G ENSP00000375079.2:p.Lys174Arg
ENST00000649341.1:c.521A>G ENSP00000497635.1:p.Lys174Arg
ENST00000649824.1:c.521A>G ENSP00000496806.1:p.Lys174Arg
ENST00000332272.8:c.521A>G ENSP00000328983.4:p.Lys174Arg
ENST00000390664.2:c.521A>G ENSP00000375079.2:p.Lys174Arg
NM_021615.4:c.521A>G NP_067628.1:p.Lys174Arg
XM_005255955.3:c.521A>G XP_005256012.1:p.Lys174Arg
XM_011523085.1:c.521A>G XP_011521387.1:p.Lys174Arg
NM_021615.5:c.521A>G MANE Select NP_067628.1:p.Lys174Arg
XM_005255955.5:c.521A>G XP_005256012.1:p.Lys174Arg
XM_011523085.3:c.521A>G XP_011521387.1:p.Lys174Arg
NR_163480.1:n.733+2509A>G
NR_163481.1:n.577+2509A>G