Canonical Allele Identifier: CA396790149
Gene: CHST6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.75479095A>G , CM000678.2:g.75479095A>G GRCh38
NC_000016.9:g.75512993A>G , CM000678.1:g.75512993A>G GRCh37
NC_000016.8:g.74070494A>G NCBI36
NG_016442.1:g.20934T>C
NG_016442.2:g.21347T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000332272.9:c.734T>C MANE Select ENSP00000328983.4:p.Val245Ala
ENST00000390664.3:c.734T>C ENSP00000375079.2:p.Val245Ala
ENST00000649341.1:c.734T>C ENSP00000497635.1:p.Val245Ala
ENST00000649824.1:c.734T>C ENSP00000496806.1:p.Val245Ala
ENST00000332272.8:c.734T>C ENSP00000328983.4:p.Val245Ala
ENST00000390664.2:c.734T>C ENSP00000375079.2:p.Val245Ala
NM_021615.4:c.734T>C NP_067628.1:p.Val245Ala
XM_005255955.3:c.734T>C XP_005256012.1:p.Val245Ala
XM_011523085.1:c.734T>C XP_011521387.1:p.Val245Ala
NM_021615.5:c.734T>C MANE Select NP_067628.1:p.Val245Ala
XM_005255955.5:c.734T>C XP_005256012.1:p.Val245Ala
XM_011523085.3:c.734T>C XP_011521387.1:p.Val245Ala
NR_163480.1:n.733+2722T>C
NR_163481.1:n.577+2722T>C