Canonical Allele Identifier: CA377144212
Gene: CHST3 HGNC NCBI

Linked Data

ClinVar Variation Id: 828155
ClinVar RCV Id: RCV001028033
dbSNP Id: rs1589509307

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.72007534T>G , CM000672.2:g.72007534T>G GRCh38
NC_000010.10:g.73767292T>G , CM000672.1:g.73767292T>G GRCh37
NC_000010.9:g.73437298T>G NCBI36
NG_012635.1:g.48173T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000373115.5:c.503T>G MANE Select ENSP00000362207.4:p.Ile168Ser
ENST00000373115.4:c.503T>G ENSP00000362207.4:p.Ile168Ser
NM_004273.4:c.503T>G NP_004264.2:p.Ile168Ser
XM_006718075.2:c.503T>G XP_006718138.1:p.Ile168Ser
XM_011540369.1:c.503T>G XP_011538671.1:p.Ile168Ser
XM_006718075.4:c.503T>G XP_006718138.1:p.Ile168Ser
XM_011540369.2:c.503T>G XP_011538671.1:p.Ile168Ser
NM_004273.5:c.503T>G MANE Select NP_004264.2:p.Ile168Ser