Canonical Allele Identifier: CA396790370

Gene: CHST6

Linked Data

• gnomAD v4: 16-75479150-C-A
• COSMIC: COSM1679276
• MyVariant Identifiers: chr16:g.75513048C>A (hg19) ; chr16:g.75479150C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75479150C>A , CM000678.2:g.75479150C>A	GRCh38
NC_000016.9:g.75513048C>A , CM000678.1:g.75513048C>A	GRCh37
NC_000016.8:g.74070549C>A	NCBI36
NG_016442.1:g.20879G>T
NG_016442.2:g.21292G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332272.9:c.679G>T MANE Select	ENSP00000328983.4:p.Gly227Cys
ENST00000390664.3:c.679G>T	ENSP00000375079.2:p.Gly227Cys
ENST00000649341.1:c.679G>T	ENSP00000497635.1:p.Gly227Cys
ENST00000649824.1:c.679G>T	ENSP00000496806.1:p.Gly227Cys
ENST00000332272.8:c.679G>T	ENSP00000328983.4:p.Gly227Cys
ENST00000390664.2:c.679G>T	ENSP00000375079.2:p.Gly227Cys
NM_021615.4:c.679G>T	NP_067628.1:p.Gly227Cys
XM_005255955.3:c.679G>T	XP_005256012.1:p.Gly227Cys
XM_011523085.1:c.679G>T	XP_011521387.1:p.Gly227Cys
NM_021615.5:c.679G>T MANE Select	NP_067628.1:p.Gly227Cys
XM_005255955.5:c.679G>T	XP_005256012.1:p.Gly227Cys
XM_011523085.3:c.679G>T	XP_011521387.1:p.Gly227Cys
NR_163480.1:n.733+2667G>T
NR_163481.1:n.577+2667G>T