Canonical Allele Identifier: CA449818954
Gene: CYP21A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.32008725G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040948G>A , CM000668.2:g.32040948G>A GRCh38
NC_000006.11:g.32008725G>A , CM000668.1:g.32008725G>A GRCh37
NC_000006.10:g.32116704G>A NCBI36
NG_007941.2:g.7641G>A
NG_008337.2:g.73427C>T
NG_007941.3:g.7644G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.1302G>A MANE Select ENSP00000496625.1:p.Leu434=
ENST00000418967.6:c.1302G>A ENSP00000408860.2:p.Leu434=
ENST00000435122.3:c.1212G>A ENSP00000415043.2:p.Leu404=
ENST00000479074.5:n.1443G>A
ENST00000479730.5:n.1418G>A
ENST00000483041.5:n.1471G>A
ENST00000486063.5:n.1281G>A
NM_000500.7:c.1302G>A NP_000491.4:p.Leu434=
NM_001128590.3:c.1212G>A NP_001122062.3:p.Leu404=
XM_011514314.1:c.897G>A XP_011512616.1:p.Leu299=
NM_000500.9:c.1302G>A MANE Select NP_000491.4:p.Leu434=
NM_001368143.1:c.897G>A NP_001355072.1:p.Leu299=
NM_001368144.1:c.897G>A NP_001355073.1:p.Leu299=
NM_001128590.4:c.1212G>A NP_001122062.3:p.Leu404=
NM_001368143.2:c.897G>A NP_001355072.1:p.Leu299=
NM_001368144.2:c.897G>A NP_001355073.1:p.Leu299=