Canonical Allele Identifier: CA363507405
Gene: CYP21A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040176G>T , CM000668.2:g.32040176G>T GRCh38
NC_000006.11:g.32007953G>T , CM000668.1:g.32007953G>T GRCh37
NC_000006.10:g.32115932G>T NCBI36
NG_007941.2:g.6869G>T
NG_008337.2:g.74199C>A
NG_007941.3:g.6872G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.910G>T MANE Select ENSP00000496625.1:p.Ala304Ser
ENST00000418967.6:c.910G>T ENSP00000408860.2:p.Ala304Ser
ENST00000435122.3:c.820G>T ENSP00000415043.2:p.Ala274Ser
ENST00000479074.5:n.968G>T
ENST00000479730.5:n.1026G>T
ENST00000483041.5:n.1079G>T
ENST00000486063.5:n.919-230G>T
NM_000500.7:c.910G>T NP_000491.4:p.Ala304Ser
NM_001128590.3:c.820G>T NP_001122062.3:p.Ala274Ser
XM_011514314.1:c.505G>T XP_011512616.1:p.Ala169Ser
NM_000500.9:c.910G>T MANE Select NP_000491.4:p.Ala304Ser
NM_001368143.1:c.505G>T NP_001355072.1:p.Ala169Ser
NM_001368144.1:c.505G>T NP_001355073.1:p.Ala169Ser
NM_001128590.4:c.820G>T NP_001122062.3:p.Ala274Ser
NM_001368143.2:c.505G>T NP_001355072.1:p.Ala169Ser
NM_001368144.2:c.505G>T NP_001355073.1:p.Ala169Ser