Canonical Allele Identifier: CA14846699
Gene: DDRGK1 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.3204477A>T
GRCh37 chr20:g.3185123A>T
gnomAD v2:
20:3185123 A / T
gnomAD v3:
20:3204477 A / T
gnomAD v4:
chr20-3204477-A-T
Joint Max Group AF 0.15368612 (EAS)
Genomes Max Group AF 0.16591327 (EAS)
Exomes Max Group AF 0.15081419 (EAS)
dbSNP:
11697186
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3204477A>T , CM000682.2:g.3204477A>T GRCh38
NC_000020.10:g.3185123A>T , CM000682.1:g.3185123A>T GRCh37
NC_000020.9:g.3133123A>T NCBI36
NG_012093.1:g.68A>T
NG_012093.2:g.611A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000354488.8:c.91+60T>A MANE Select ENSP00000346483.3:n.91+60T>A
ENST00000354488.7:c.91+60T>A ENSP00000346483.3:n.91+60T>A
ENST00000380201.2:c.91+60T>A ENSP00000369548.2:n.91+60T>A
NM_023935.1:c.91+60T>A NP_076424.1:n.91+60T>A
NM_023935.2:c.91+60T>A NP_076424.1:n.91+60T>A
NM_023935.3:c.91+60T>A MANE Select NP_076424.1:n.91+60T>A
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