Canonical Allele Identifier: CA377151488
Gene: CHST3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2101103
ClinVar RCV Id: RCV003033664

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.72008196G>A , CM000672.2:g.72008196G>A GRCh38
NC_000010.10:g.73767954G>A , CM000672.1:g.73767954G>A GRCh37
NC_000010.9:g.73437960G>A NCBI36
NG_012635.1:g.48835G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373115.5:c.1165G>A MANE Select ENSP00000362207.4:p.Ala389Thr
ENST00000373115.4:c.1165G>A ENSP00000362207.4:p.Ala389Thr
NM_004273.4:c.1165G>A NP_004264.2:p.Ala389Thr
XM_006718075.2:c.1165G>A XP_006718138.1:p.Ala389Thr
XM_011540369.1:c.1165G>A XP_011538671.1:p.Ala389Thr
XM_006718075.4:c.1165G>A XP_006718138.1:p.Ala389Thr
XM_011540369.2:c.1165G>A XP_011538671.1:p.Ala389Thr
NM_004273.5:c.1165G>A MANE Select NP_004264.2:p.Ala389Thr