Canonical Allele Identifier: CA396790624

Gene: CHST6

Linked Data

• gnomAD v4: 16-75479218-G-A
• COSMIC: COSM4502373
• MyVariant Identifiers: chr16:g.75513116G>A (hg19) ; chr16:g.75479218G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75479218G>A , CM000678.2:g.75479218G>A	GRCh38
NC_000016.9:g.75513116G>A , CM000678.1:g.75513116G>A	GRCh37
NC_000016.8:g.74070617G>A	NCBI36
NG_016442.1:g.20811C>T
NG_016442.2:g.21224C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332272.9:c.611C>T MANE Select	ENSP00000328983.4:p.Pro204Leu
ENST00000390664.3:c.611C>T	ENSP00000375079.2:p.Pro204Leu
ENST00000649341.1:c.611C>T	ENSP00000497635.1:p.Pro204Leu
ENST00000649824.1:c.611C>T	ENSP00000496806.1:p.Pro204Leu
ENST00000332272.8:c.611C>T	ENSP00000328983.4:p.Pro204Leu
ENST00000390664.2:c.611C>T	ENSP00000375079.2:p.Pro204Leu
NM_021615.4:c.611C>T	NP_067628.1:p.Pro204Leu
XM_005255955.3:c.611C>T	XP_005256012.1:p.Pro204Leu
XM_011523085.1:c.611C>T	XP_011521387.1:p.Pro204Leu
NM_021615.5:c.611C>T MANE Select	NP_067628.1:p.Pro204Leu
XM_005255955.5:c.611C>T	XP_005256012.1:p.Pro204Leu
XM_011523085.3:c.611C>T	XP_011521387.1:p.Pro204Leu
NR_163480.1:n.733+2599C>T
NR_163481.1:n.577+2599C>T