Canonical Allele Identifier: CA5548159
Gene: CHST3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1377424
ClinVar RCV Id: RCV001889907
dbSNP Id: rs200988207

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