Canonical Allele Identifier: CA449818931
Gene: CYP21A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.32008713G>C (hg19)

Genomic Alleles

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

Transcript Alleles

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