Canonical Allele Identifier: CA5548141
Gene: CHST3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1486180
ClinVar RCV Id: RCV002003402
dbSNP Id: rs779793827
ExAC: 10:73767444 A / G
gnomAD v2: 10-73767444-A-G
gnomAD v4: 10-72007686-A-G
MyVariant Identifiers: chr10:g.73767444A>G (hg19) chr10:g.72007686A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.72007686A>G , CM000672.2:g.72007686A>G GRCh38
NC_000010.10:g.73767444A>G , CM000672.1:g.73767444A>G GRCh37
NC_000010.9:g.73437450A>G NCBI36
NG_012635.1:g.48325A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373115.5:c.655A>G MANE Select ENSP00000362207.4:p.Met219Val
ENST00000373115.4:c.655A>G ENSP00000362207.4:p.Met219Val
NM_004273.4:c.655A>G NP_004264.2:p.Met219Val
XM_006718075.2:c.655A>G XP_006718138.1:p.Met219Val
XM_011540369.1:c.655A>G XP_011538671.1:p.Met219Val
XM_006718075.4:c.655A>G XP_006718138.1:p.Met219Val
XM_011540369.2:c.655A>G XP_011538671.1:p.Met219Val
NM_004273.5:c.655A>G MANE Select NP_004264.2:p.Met219Val
Search 100 bp 5'
Search 100 bp 3'