Canonical Allele Identifier: CA283854568

Gene: CHST6

Linked Data

• dbSNP Id: rs1027441120
• gnomAD v2: 16-75513175-G-A
• gnomAD v3: 16-75479277-G-A
• gnomAD v4: 16-75479277-G-A
• MyVariant Identifiers: chr16:g.75513175G>A (hg19) ; chr16:g.75479277G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75479277G>A , CM000678.2:g.75479277G>A	GRCh38
NC_000016.9:g.75513175G>A , CM000678.1:g.75513175G>A	GRCh37
NC_000016.8:g.74070676G>A	NCBI36
NG_016442.1:g.20752C>T
NG_016442.2:g.21165C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332272.9:c.552C>T MANE Select	ENSP00000328983.4:p.Leu184=
ENST00000390664.3:c.552C>T	ENSP00000375079.2:p.Leu184=
ENST00000649341.1:c.552C>T	ENSP00000497635.1:p.Leu184=
ENST00000649824.1:c.552C>T	ENSP00000496806.1:p.Leu184=
ENST00000332272.8:c.552C>T	ENSP00000328983.4:p.Leu184=
ENST00000390664.2:c.552C>T	ENSP00000375079.2:p.Leu184=
NM_021615.4:c.552C>T	NP_067628.1:p.Leu184=
XM_005255955.3:c.552C>T	XP_005256012.1:p.Leu184=
XM_011523085.1:c.552C>T	XP_011521387.1:p.Leu184=
NM_021615.5:c.552C>T MANE Select	NP_067628.1:p.Leu184=
XM_005255955.5:c.552C>T	XP_005256012.1:p.Leu184=
XM_011523085.3:c.552C>T	XP_011521387.1:p.Leu184=
NR_163480.1:n.733+2540C>T
NR_163481.1:n.577+2540C>T