Canonical Allele Identifier: CA2678090187
Gene: CYP21A2 HGNC NCBI

Linked Data

gnomAD v4: 6-32040861-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040861G>C , CM000668.2:g.32040861G>C GRCh38
NC_000006.11:g.32008638G>C , CM000668.1:g.32008638G>C GRCh37
NC_000006.10:g.32116617G>C NCBI36
NG_007941.2:g.7554G>C
NG_008337.2:g.73514C>G
NG_007941.3:g.7557G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.1223-8G>C MANE Select ENSP00000496625.1:n.1223-8G>C
ENST00000418967.6:c.1223-8G>C ENSP00000408860.2:n.1223-8G>C
ENST00000435122.3:c.1133-8G>C ENSP00000415043.2:n.1133-8G>C
ENST00000479074.5:n.1364-8G>C
ENST00000479730.5:n.1339-8G>C
ENST00000483041.5:n.1392-8G>C
ENST00000486063.5:n.1202-8G>C
NM_000500.7:c.1223-8G>C NP_000491.4:n.1223-8G>C
NM_001128590.3:c.1133-8G>C NP_001122062.3:n.1133-8G>C
XM_011514314.1:c.818-8G>C XP_011512616.1:n.818-8G>C
NM_000500.9:c.1223-8G>C MANE Select NP_000491.4:n.1223-8G>C
NM_001368143.1:c.818-8G>C NP_001355072.1:n.818-8G>C
NM_001368144.1:c.818-8G>C NP_001355073.1:n.818-8G>C
NM_001128590.4:c.1133-8G>C NP_001122062.3:n.1133-8G>C
NM_001368143.2:c.818-8G>C NP_001355072.1:n.818-8G>C
NM_001368144.2:c.818-8G>C NP_001355073.1:n.818-8G>C