Canonical Allele Identifier: CA253735

Gene: CHST3

Linked Data

• ClinVar Variation Id: 6049
• ClinVar RCV Id: RCV000006421 ; RCV001596932
• dbSNP Id: rs145538723
• ExAC: 10:73767264 T / A
• gnomAD v2: 10-73767264-T-A
• gnomAD v3: 10-72007506-T-A
• gnomAD v4: 10-72007506-T-A
• MyVariant Identifiers: chr10:g.73767264T>A (hg19) ; chr10:g.72007506T>A (hg38)
• PubMed: PMID:9039660 ; PMID:20830804

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.72007506T>A , CM000672.2:g.72007506T>A	GRCh38
NC_000010.10:g.73767264T>A , CM000672.1:g.73767264T>A	GRCh37
NC_000010.9:g.73437270T>A	NCBI36
NG_012635.1:g.48145T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373115.5:c.475T>A MANE Select	ENSP00000362207.4:p.Phe159Ile
ENST00000373115.4:c.475T>A	ENSP00000362207.4:p.Phe159Ile
NM_004273.4:c.475T>A	NP_004264.2:p.Phe159Ile
XM_006718075.2:c.475T>A	XP_006718138.1:p.Phe159Ile
XM_011540369.1:c.475T>A	XP_011538671.1:p.Phe159Ile
XM_006718075.4:c.475T>A	XP_006718138.1:p.Phe159Ile
XM_011540369.2:c.475T>A	XP_011538671.1:p.Phe159Ile
NM_004273.5:c.475T>A MANE Select	NP_004264.2:p.Phe159Ile