Canonical Allele Identifier: CA396790695

Gene: CHST6

Linked Data

• dbSNP Id: rs777714119
• gnomAD v2: 16-75513135-C-G
• gnomAD v4: 16-75479237-C-G
• MyVariant Identifiers: chr16:g.75513135C>G (hg19) ; chr16:g.75479237C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75479237C>G , CM000678.2:g.75479237C>G	GRCh38
NC_000016.9:g.75513135C>G , CM000678.1:g.75513135C>G	GRCh37
NC_000016.8:g.74070636C>G	NCBI36
NG_016442.1:g.20792G>C
NG_016442.2:g.21205G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332272.9:c.592G>C MANE Select	ENSP00000328983.4:p.Val198Leu
ENST00000390664.3:c.592G>C	ENSP00000375079.2:p.Val198Leu
ENST00000649341.1:c.592G>C	ENSP00000497635.1:p.Val198Leu
ENST00000649824.1:c.592G>C	ENSP00000496806.1:p.Val198Leu
ENST00000332272.8:c.592G>C	ENSP00000328983.4:p.Val198Leu
ENST00000390664.2:c.592G>C	ENSP00000375079.2:p.Val198Leu
NM_021615.4:c.592G>C	NP_067628.1:p.Val198Leu
XM_005255955.3:c.592G>C	XP_005256012.1:p.Val198Leu
XM_011523085.1:c.592G>C	XP_011521387.1:p.Val198Leu
NM_021615.5:c.592G>C MANE Select	NP_067628.1:p.Val198Leu
XM_005255955.5:c.592G>C	XP_005256012.1:p.Val198Leu
XM_011523085.3:c.592G>C	XP_011521387.1:p.Val198Leu
NR_163480.1:n.733+2580G>C
NR_163481.1:n.577+2580G>C