Canonical Allele Identifier: CA3732715
Gene: CYP21A2 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.32040919G>A
GRCh37 chr6:g.32008696G>A
Revel Score:
ENST00000418967 0.908
ENST00000435122 0.908
gnomAD v2:
6:32008696 G / A
gnomAD v3:
6:32040919 G / A
gnomAD v4:
chr6-32040919-G-A
Joint Max Group AF 0.00005648 (AFR)
Genomes Max Group AF 0.00004739 (AFR)
Exomes Max Group AF 0.0000285 (AFR)
ClinVar RCV:
RCV000991861
RCV002249597
ClinVar Variation:
804725
dbSNP:
72552758
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040919G>A , CM000668.2:g.32040919G>A GRCh38
NC_000006.11:g.32008696G>A , CM000668.1:g.32008696G>A GRCh37
NC_000006.10:g.32116675G>A NCBI36
NG_007941.2:g.7612G>A
NG_008337.2:g.73456C>T
NG_007941.3:g.7615G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.1273G>A MANE Select ENSP00000496625.1:p.Gly425Ser
ENST00000418967.6:c.1273G>A ENSP00000408860.2:p.Gly425Ser
ENST00000435122.3:c.1183G>A ENSP00000415043.2:p.Gly395Ser
ENST00000479074.5:n.1414G>A
ENST00000479730.5:n.1389G>A
ENST00000483041.5:n.1442G>A
ENST00000486063.5:n.1252G>A
NM_000500.7:c.1273G>A NP_000491.4:p.Gly425Ser
NM_001128590.3:c.1183G>A NP_001122062.3:p.Gly395Ser
XM_011514314.1:c.868G>A XP_011512616.1:p.Gly290Ser
NM_000500.9:c.1273G>A MANE Select NP_000491.4:p.Gly425Ser
NM_001368143.1:c.868G>A NP_001355072.1:p.Gly290Ser
NM_001368144.1:c.868G>A NP_001355073.1:p.Gly290Ser
NM_001128590.4:c.1183G>A NP_001122062.3:p.Gly395Ser
NM_001368143.2:c.868G>A NP_001355072.1:p.Gly290Ser
NM_001368144.2:c.868G>A NP_001355073.1:p.Gly290Ser
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