Canonical Allele Identifier: CA5548217
Gene: CHST3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1371712
ClinVar RCV Id: RCV001864619
dbSNP Id: rs756147851
ExAC: 10:73767973 C / T
gnomAD v2: 10-73767973-C-T
gnomAD v3: 10-72008215-C-T
gnomAD v4: 10-72008215-C-T
COSMIC: COSM5360225
MyVariant Identifiers: chr10:g.73767973C>T (hg19) chr10:g.72008215C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.72008215C>T , CM000672.2:g.72008215C>T GRCh38
NC_000010.10:g.73767973C>T , CM000672.1:g.73767973C>T GRCh37
NC_000010.9:g.73437979C>T NCBI36
NG_012635.1:g.48854C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000373115.5:c.1184C>T MANE Select ENSP00000362207.4:p.Pro395Leu
ENST00000373115.4:c.1184C>T ENSP00000362207.4:p.Pro395Leu
NM_004273.4:c.1184C>T NP_004264.2:p.Pro395Leu
XM_006718075.2:c.1184C>T XP_006718138.1:p.Pro395Leu
XM_011540369.1:c.1184C>T XP_011538671.1:p.Pro395Leu
XM_006718075.4:c.1184C>T XP_006718138.1:p.Pro395Leu
XM_011540369.2:c.1184C>T XP_011538671.1:p.Pro395Leu
NM_004273.5:c.1184C>T MANE Select NP_004264.2:p.Pro395Leu
Search 100 bp 5'
Search 100 bp 3'