Canonical Allele Identifier: CA10635816
Gene: CHST3 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.72010359T>C
GRCh37 chr10:g.73770117T>C
gnomAD v2:
10:73770117 T / C
gnomAD v3:
10:72010359 T / C
gnomAD v4:
chr10-72010359-T-C
Joint Max Group AF 0.46885134 (NFE)
Genomes Max Group AF 0.46891555 (NFE)
Exomes Max Group AF 0.17768 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.72010359T>C , CM000672.2:g.72010359T>C GRCh38
NC_000010.10:g.73770117T>C , CM000672.1:g.73770117T>C GRCh37
NC_000010.9:g.73440123T>C NCBI36
NG_012635.1:g.50998T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373115.5:c.*1888T>C MANE Select ENSP00000362207.4:n.*1888T>C
ENST00000373115.4:c.*1888T>C ENSP00000362207.4:n.*1888T>C
NM_004273.4:c.*1888T>C NP_004264.2:n.*1888T>C
XM_006718075.2:c.*1888T>C XP_006718138.1:n.*1888T>C
XM_011540369.1:c.*1888T>C XP_011538671.1:n.*1888T>C
XM_006718075.4:c.*1888T>C XP_006718138.1:n.*1888T>C
XM_011540369.2:c.*1888T>C XP_011538671.1:n.*1888T>C
NM_004273.5:c.*1888T>C MANE Select NP_004264.2:n.*1888T>C
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