Canonical Allele Identifier: CA377151823
Gene: CHST3 HGNC NCBI

Linked Data

ClinVar Variation Id: 593375
ClinVar RCV Id: RCV000728398
dbSNP Id: rs1315027057
gnomAD v4: 10-72008268-G-T
MyVariant Identifiers: chr10:g.73768026G>T (hg19) chr10:g.72008268G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.72008268G>T , CM000672.2:g.72008268G>T GRCh38
NC_000010.10:g.73768026G>T , CM000672.1:g.73768026G>T GRCh37
NC_000010.9:g.73438032G>T NCBI36
NG_012635.1:g.48907G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000373115.5:c.1237G>T MANE Select ENSP00000362207.4:p.Gly413Cys
ENST00000373115.4:c.1237G>T ENSP00000362207.4:p.Gly413Cys
NM_004273.4:c.1237G>T NP_004264.2:p.Gly413Cys
XM_006718075.2:c.1237G>T XP_006718138.1:p.Gly413Cys
XM_011540369.1:c.1237G>T XP_011538671.1:p.Gly413Cys
XM_006718075.4:c.1237G>T XP_006718138.1:p.Gly413Cys
XM_011540369.2:c.1237G>T XP_011538671.1:p.Gly413Cys
NM_004273.5:c.1237G>T MANE Select NP_004264.2:p.Gly413Cys
Search 100 bp 5'
Search 100 bp 3'