Canonical Allele Identifier: CA2678090824
Gene: CYP21A2 HGNC NCBI

Linked Data

gnomAD v4: 6-32041139-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32041139G>T , CM000668.2:g.32041139G>T GRCh38
NC_000006.11:g.32008916G>T , CM000668.1:g.32008916G>T GRCh37
NC_000006.10:g.32116895G>T NCBI36
NG_007941.2:g.7832G>T
NG_008337.2:g.73236C>A
NG_007941.3:g.7835G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.*5G>T MANE Select ENSP00000496625.1:n.*5G>T
ENST00000418967.6:c.*5G>T ENSP00000408860.2:n.*5G>T
ENST00000435122.3:c.*5G>T ENSP00000415043.2:n.*5G>T
ENST00000479074.5:n.1634G>T
ENST00000479730.5:n.1609G>T
ENST00000483041.5:n.1662G>T
ENST00000486063.5:n.1472G>T
NM_000500.7:c.*5G>T NP_000491.4:n.*5G>T
NM_001128590.3:c.*5G>T NP_001122062.3:n.*5G>T
XM_011514314.1:c.*5G>T XP_011512616.1:n.*5G>T
NM_000500.9:c.*5G>T MANE Select NP_000491.4:n.*5G>T
NM_001368143.1:c.*5G>T NP_001355072.1:n.*5G>T
NM_001368144.1:c.*5G>T NP_001355073.1:n.*5G>T
NM_001128590.4:c.*5G>T NP_001122062.3:n.*5G>T
NM_001368143.2:c.*5G>T NP_001355072.1:n.*5G>T
NM_001368144.2:c.*5G>T NP_001355073.1:n.*5G>T