Canonical Allele Identifier: CA5548196

Gene: CHST3

Linked Data

• ClinVar Variation Id: 300565
• ClinVar RCV Id: RCV000385924 ; RCV000272819 ; RCV000327919 ; RCV002520628 ; RCV001564255 ; RCV000382557
• dbSNP Id: rs150466838
• ExAC: 10:73767792 G / A
• gnomAD v2: 10-73767792-G-A
• gnomAD v3: 10-72008034-G-A
• gnomAD v4: 10-72008034-G-A
• MyVariant Identifiers: chr10:g.73767792G>A (hg19) ; chr10:g.72008034G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.72008034G>A , CM000672.2:g.72008034G>A	GRCh38
NC_000010.10:g.73767792G>A , CM000672.1:g.73767792G>A	GRCh37
NC_000010.9:g.73437798G>A	NCBI36
NG_012635.1:g.48673G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373115.5:c.1003G>A MANE Select	ENSP00000362207.4:p.Glu335Lys
ENST00000373115.4:c.1003G>A	ENSP00000362207.4:p.Glu335Lys
NM_004273.4:c.1003G>A	NP_004264.2:p.Glu335Lys
XM_006718075.2:c.1003G>A	XP_006718138.1:p.Glu335Lys
XM_011540369.1:c.1003G>A	XP_011538671.1:p.Glu335Lys
XM_006718075.4:c.1003G>A	XP_006718138.1:p.Glu335Lys
XM_011540369.2:c.1003G>A	XP_011538671.1:p.Glu335Lys
NM_004273.5:c.1003G>A MANE Select	NP_004264.2:p.Glu335Lys