Canonical Allele Identifier: CA449818930
Gene: CYP21A2 HGNC NCBI

Linked Data

gnomAD v4: 6-32040936-G-A
MyVariant Identifiers: chr6:g.32008713G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040936G>A , CM000668.2:g.32040936G>A GRCh38
NC_000006.11:g.32008713G>A , CM000668.1:g.32008713G>A GRCh37
NC_000006.10:g.32116692G>A NCBI36
NG_007941.2:g.7629G>A
NG_008337.2:g.73439C>T
NG_007941.3:g.7632G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.1290G>A MANE Select ENSP00000496625.1:p.Leu430=
ENST00000418967.6:c.1290G>A ENSP00000408860.2:p.Leu430=
ENST00000435122.3:c.1200G>A ENSP00000415043.2:p.Leu400=
ENST00000479074.5:n.1431G>A
ENST00000479730.5:n.1406G>A
ENST00000483041.5:n.1459G>A
ENST00000486063.5:n.1269G>A
NM_000500.7:c.1290G>A NP_000491.4:p.Leu430=
NM_001128590.3:c.1200G>A NP_001122062.3:p.Leu400=
XM_011514314.1:c.885G>A XP_011512616.1:p.Leu295=
NM_000500.9:c.1290G>A MANE Select NP_000491.4:p.Leu430=
NM_001368143.1:c.885G>A NP_001355072.1:p.Leu295=
NM_001368144.1:c.885G>A NP_001355073.1:p.Leu295=
NM_001128590.4:c.1200G>A NP_001122062.3:p.Leu400=
NM_001368143.2:c.885G>A NP_001355072.1:p.Leu295=
NM_001368144.2:c.885G>A NP_001355073.1:p.Leu295=