Canonical Allele Identifier: CA5548159

Gene: CHST3

Linked Data

• ClinVar Variation Id: 1377424
• ClinVar RCV Id: RCV001889907
• dbSNP Id: rs200988207
• ExAC: 10:73767546 G / A
• gnomAD v2: 10-73767546-G-A
• gnomAD v3: 10-72007788-G-A
• gnomAD v4: 10-72007788-G-A
• MyVariant Identifiers: chr10:g.73767546G>A (hg19) ; chr10:g.72007788G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.72007788G>A , CM000672.2:g.72007788G>A	GRCh38
NC_000010.10:g.73767546G>A , CM000672.1:g.73767546G>A	GRCh37
NC_000010.9:g.73437552G>A	NCBI36
NG_012635.1:g.48427G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373115.5:c.757G>A MANE Select	ENSP00000362207.4:p.Gly253Ser
ENST00000373115.4:c.757G>A	ENSP00000362207.4:p.Gly253Ser
NM_004273.4:c.757G>A	NP_004264.2:p.Gly253Ser
XM_006718075.2:c.757G>A	XP_006718138.1:p.Gly253Ser
XM_011540369.1:c.757G>A	XP_011538671.1:p.Gly253Ser
XM_006718075.4:c.757G>A	XP_006718138.1:p.Gly253Ser
XM_011540369.2:c.757G>A	XP_011538671.1:p.Gly253Ser
NM_004273.5:c.757G>A MANE Select	NP_004264.2:p.Gly253Ser