Canonical Allele Identifier: CA3732597
Gene: CYP21A2 HGNC NCBI

Linked Data

dbSNP Id: rs142058202
gnomAD v2: 6-32008210-G-C
gnomAD v3: 6-32040433-G-C
gnomAD v4: 6-32040433-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040433G>C , CM000668.2:g.32040433G>C GRCh38
NC_000006.11:g.32008210G>C , CM000668.1:g.32008210G>C GRCh37
NC_000006.10:g.32116189G>C NCBI36
NG_007941.2:g.7126G>C
NG_008337.2:g.73942C>G
NG_007941.3:g.7129G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.967G>C MANE Select ENSP00000496625.1:p.Asp323His
ENST00000418967.6:c.967G>C ENSP00000408860.2:p.Asp323His
ENST00000435122.3:c.877G>C ENSP00000415043.2:p.Asp293His
ENST00000479074.5:n.1025G>C
ENST00000479730.5:n.1083G>C
ENST00000483041.5:n.1136G>C
ENST00000486063.5:n.946G>C
NM_000500.7:c.967G>C NP_000491.4:p.Asp323His
NM_001128590.3:c.877G>C NP_001122062.3:p.Asp293His
XM_011514314.1:c.562G>C XP_011512616.1:p.Asp188His
NM_000500.9:c.967G>C MANE Select NP_000491.4:p.Asp323His
NM_001368143.1:c.562G>C NP_001355072.1:p.Asp188His
NM_001368144.1:c.562G>C NP_001355073.1:p.Asp188His
NM_001128590.4:c.877G>C NP_001122062.3:p.Asp293His
NM_001368143.2:c.562G>C NP_001355072.1:p.Asp188His
NM_001368144.2:c.562G>C NP_001355073.1:p.Asp188His