Canonical Allele Identifier: CA449818775
Gene: CYP21A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.32008266A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040489A>C , CM000668.2:g.32040489A>C GRCh38
NC_000006.11:g.32008266A>C , CM000668.1:g.32008266A>C GRCh37
NC_000006.10:g.32116245A>C NCBI36
NG_007941.2:g.7182A>C
NG_008337.2:g.73886T>G
NG_007941.3:g.7185A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.1023A>C MANE Select ENSP00000496625.1:p.Ala341=
ENST00000418967.6:c.1023A>C ENSP00000408860.2:p.Ala341=
ENST00000435122.3:c.933A>C ENSP00000415043.2:p.Ala311=
ENST00000479074.5:n.1081A>C
ENST00000479730.5:n.1139A>C
ENST00000483041.5:n.1192A>C
ENST00000486063.5:n.1002A>C
NM_000500.7:c.1023A>C NP_000491.4:p.Ala341=
NM_001128590.3:c.933A>C NP_001122062.3:p.Ala311=
XM_011514314.1:c.618A>C XP_011512616.1:p.Ala206=
NM_000500.9:c.1023A>C MANE Select NP_000491.4:p.Ala341=
NM_001368143.1:c.618A>C NP_001355072.1:p.Ala206=
NM_001368144.1:c.618A>C NP_001355073.1:p.Ala206=
NM_001128590.4:c.933A>C NP_001122062.3:p.Ala311=
NM_001368143.2:c.618A>C NP_001355072.1:p.Ala206=
NM_001368144.2:c.618A>C NP_001355073.1:p.Ala206=