Canonical Allele Identifier: CA253725
Gene: CHST3 HGNC NCBI

Linked Data

ClinVar Variation Id: 6041
ClinVar RCV Id: RCV000006413
dbSNP Id: rs121908616

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.72007807T>C , CM000672.2:g.72007807T>C GRCh38
NC_000010.10:g.73767565T>C , CM000672.1:g.73767565T>C GRCh37
NC_000010.9:g.73437571T>C NCBI36
NG_012635.1:g.48446T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373115.5:c.776T>C MANE Select ENSP00000362207.4:p.Leu259Pro
ENST00000373115.4:c.776T>C ENSP00000362207.4:p.Leu259Pro
NM_004273.4:c.776T>C NP_004264.2:p.Leu259Pro
XM_006718075.2:c.776T>C XP_006718138.1:p.Leu259Pro
XM_011540369.1:c.776T>C XP_011538671.1:p.Leu259Pro
XM_006718075.4:c.776T>C XP_006718138.1:p.Leu259Pro
XM_011540369.2:c.776T>C XP_011538671.1:p.Leu259Pro
NM_004273.5:c.776T>C MANE Select NP_004264.2:p.Leu259Pro