Canonical Allele Identifier: CA253726
Gene: CHST3 HGNC NCBI

Linked Data

ClinVar Variation Id: 6042
ClinVar RCV Id: RCV000006414
dbSNP Id: rs267606734

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.72008145G>A , CM000672.2:g.72008145G>A GRCh38
NC_000010.10:g.73767903G>A , CM000672.1:g.73767903G>A GRCh37
NC_000010.9:g.73437909G>A NCBI36
NG_012635.1:g.48784G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000373115.5:c.1114G>A MANE Select ENSP00000362207.4:p.Glu372Lys
ENST00000373115.4:c.1114G>A ENSP00000362207.4:p.Glu372Lys
NM_004273.4:c.1114G>A NP_004264.2:p.Glu372Lys
XM_006718075.2:c.1114G>A XP_006718138.1:p.Glu372Lys
XM_011540369.1:c.1114G>A XP_011538671.1:p.Glu372Lys
XM_006718075.4:c.1114G>A XP_006718138.1:p.Glu372Lys
XM_011540369.2:c.1114G>A XP_011538671.1:p.Glu372Lys
NM_004273.5:c.1114G>A MANE Select NP_004264.2:p.Glu372Lys