Canonical Allele Identifier: CA449818510
Gene: CYP21A2 HGNC NCBI

Linked Data

gnomAD v4: 6-32038527-G-C
MyVariant Identifiers: chr6:g.32006304G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32038527G>C , CM000668.2:g.32038527G>C GRCh38
NC_000006.11:g.32006304G>C , CM000668.1:g.32006304G>C GRCh37
NC_000006.10:g.32114283G>C NCBI36
NG_007941.2:g.5220G>C
NG_007941.3:g.5223G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.105G>C MANE Select ENSP00000496625.1:p.Pro35=
ENST00000418967.6:c.105G>C ENSP00000408860.2:p.Pro35=
ENST00000435122.3:c.105G>C ENSP00000415043.2:p.Pro35=
ENST00000466779.5:c.105G>C ENSP00000417321.1:p.Pro35=
ENST00000469053.5:c.105G>C ENSP00000418104.1:p.Pro35=
ENST00000471671.4:c.105G>C ENSP00000418561.1:p.Pro35=
ENST00000478281.5:c.105G>C ENSP00000419572.1:p.Pro35=
ENST00000479074.5:n.163G>C
ENST00000479730.5:n.163G>C
ENST00000480027.1:n.158G>C
ENST00000483041.5:n.158G>C
ENST00000486063.5:n.188G>C
ENST00000488465.1:n.113G>C
NM_000500.7:c.105G>C NP_000491.4:p.Pro35=
NM_001128590.3:c.105G>C NP_001122062.3:p.Pro35=
XM_011514314.1:c.-320G>C XP_011512616.1:n.-320G>C
NM_000500.9:c.105G>C MANE Select NP_000491.4:p.Pro35=
NM_001368143.1:c.-320G>C NP_001355072.1:n.-320G>C
NM_001368144.1:c.-230G>C NP_001355073.1:n.-230G>C
NM_001128590.4:c.105G>C NP_001122062.3:p.Pro35=
NM_001368143.2:c.-320G>C NP_001355072.1:n.-320G>C
NM_001368144.2:c.-230G>C NP_001355073.1:n.-230G>C