Canonical Allele Identifier: CA209479393
Gene: CHST3 HGNC NCBI

Linked Data

ClinVar Variation Id: 596968
ClinVar RCV Id: RCV000732952
dbSNP Id: rs905033055

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.72008218A>G , CM000672.2:g.72008218A>G GRCh38
NC_000010.10:g.73767976A>G , CM000672.1:g.73767976A>G GRCh37
NC_000010.9:g.73437982A>G NCBI36
NG_012635.1:g.48857A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373115.5:c.1187A>G MANE Select ENSP00000362207.4:p.Gln396Arg
ENST00000373115.4:c.1187A>G ENSP00000362207.4:p.Gln396Arg
NM_004273.4:c.1187A>G NP_004264.2:p.Gln396Arg
XM_006718075.2:c.1187A>G XP_006718138.1:p.Gln396Arg
XM_011540369.1:c.1187A>G XP_011538671.1:p.Gln396Arg
XM_006718075.4:c.1187A>G XP_006718138.1:p.Gln396Arg
XM_011540369.2:c.1187A>G XP_011538671.1:p.Gln396Arg
NM_004273.5:c.1187A>G MANE Select NP_004264.2:p.Gln396Arg