Canonical Allele Identifier: CA5548068

Gene: CHST3

Linked Data

• ClinVar Variation Id: 300559
• ClinVar RCV Id: RCV000301857 ; RCV000336768 ; RCV000358981 ; RCV000390168 ; RCV004021480
• dbSNP Id: rs144885813
• ExAC: 10:73767137 G / T
• gnomAD v2: 10-73767137-G-T
• gnomAD v3: 10-72007379-G-T
• gnomAD v4: 10-72007379-G-T
• MyVariant Identifiers: chr10:g.73767137G>T (hg19) ; chr10:g.72007379G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.72007379G>T , CM000672.2:g.72007379G>T	GRCh38
NC_000010.10:g.73767137G>T , CM000672.1:g.73767137G>T	GRCh37
NC_000010.9:g.73437143G>T	NCBI36
NG_012635.1:g.48018G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373115.5:c.348G>T MANE Select	ENSP00000362207.4:p.Glu116Asp
ENST00000373115.4:c.348G>T	ENSP00000362207.4:p.Glu116Asp
NM_004273.4:c.348G>T	NP_004264.2:p.Glu116Asp
XM_006718075.2:c.348G>T	XP_006718138.1:p.Glu116Asp
XM_011540369.1:c.348G>T	XP_011538671.1:p.Glu116Asp
XM_006718075.4:c.348G>T	XP_006718138.1:p.Glu116Asp
XM_011540369.2:c.348G>T	XP_011538671.1:p.Glu116Asp
NM_004273.5:c.348G>T MANE Select	NP_004264.2:p.Glu116Asp