Canonical Allele Identifier: CA8175513

Gene: CHST6

Linked Data

• ClinVar Variation Id: 631758
• ClinVar RCV Id: RCV000778477
• dbSNP Id: rs375059043
• ExAC: 16:75513335 G / A
• gnomAD v2: 16-75513335-G-A
• gnomAD v3: 16-75479437-G-A
• gnomAD v4: 16-75479437-G-A
• MyVariant Identifiers: chr16:g.75513335G>A (hg19) ; chr16:g.75479437G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75479437G>A , CM000678.2:g.75479437G>A	GRCh38
NC_000016.9:g.75513335G>A , CM000678.1:g.75513335G>A	GRCh37
NC_000016.8:g.74070836G>A	NCBI36
NG_016442.1:g.20592C>T
NG_016442.2:g.21005C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000332272.9:c.392C>T MANE Select	ENSP00000328983.4:p.Ser131Leu
ENST00000390664.3:c.392C>T	ENSP00000375079.2:p.Ser131Leu
ENST00000649341.1:c.392C>T	ENSP00000497635.1:p.Ser131Leu
ENST00000649824.1:c.392C>T	ENSP00000496806.1:p.Ser131Leu
ENST00000332272.8:c.392C>T	ENSP00000328983.4:p.Ser131Leu
ENST00000390664.2:c.392C>T	ENSP00000375079.2:p.Ser131Leu
NM_021615.4:c.392C>T	NP_067628.1:p.Ser131Leu
XM_005255955.3:c.392C>T	XP_005256012.1:p.Ser131Leu
XM_011523085.1:c.392C>T	XP_011521387.1:p.Ser131Leu
NM_021615.5:c.392C>T MANE Select	NP_067628.1:p.Ser131Leu
XM_005255955.5:c.392C>T	XP_005256012.1:p.Ser131Leu
XM_011523085.3:c.392C>T	XP_011521387.1:p.Ser131Leu
NR_163480.1:n.733+2380C>T
NR_163481.1:n.577+2380C>T