Canonical Allele Identifier: CA3732743
Gene: CYP21A2 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.32041127G>C
GRCh37 chr6:g.32008904G>C
Revel Score:
ENST00000418967 0.063
ENST00000435122 0.063
gnomAD v2:
6:32008904 G / C
gnomAD v3:
6:32041127 G / C
gnomAD v4:
chr6-32041127-G-C
Joint Max Group AF 0.000026 (AFR)
Exomes Max Group AF 0.00004127 (AFR)
dbSNP:
6473
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32041127G>C , CM000668.2:g.32041127G>C GRCh38
NC_000006.11:g.32008904G>C , CM000668.1:g.32008904G>C GRCh37
NC_000006.10:g.32116883G>C NCBI36
NG_007941.2:g.7820G>C
NG_008337.2:g.73248C>G
NG_007941.3:g.7823G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.1481G>C MANE Select ENSP00000496625.1:p.Ser494Thr
ENST00000418967.6:c.1481G>C ENSP00000408860.2:p.Ser494Thr
ENST00000435122.3:c.1391G>C ENSP00000415043.2:p.Ser464Thr
ENST00000479074.5:n.1622G>C
ENST00000479730.5:n.1597G>C
ENST00000483041.5:n.1650G>C
ENST00000486063.5:n.1460G>C
NM_000500.7:c.1481G>C NP_000491.4:p.Ser494Thr
NM_001128590.3:c.1391G>C NP_001122062.3:p.Ser464Thr
XM_011514314.1:c.1076G>C XP_011512616.1:p.Ser359Thr
NM_000500.9:c.1481G>C MANE Select NP_000491.4:p.Ser494Thr
NM_001368143.1:c.1076G>C NP_001355072.1:p.Ser359Thr
NM_001368144.1:c.1076G>C NP_001355073.1:p.Ser359Thr
NM_001128590.4:c.1391G>C NP_001122062.3:p.Ser464Thr
NM_001368143.2:c.1076G>C NP_001355072.1:p.Ser359Thr
NM_001368144.2:c.1076G>C NP_001355073.1:p.Ser359Thr
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