Canonical Allele Identifier: CA363511920

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040918C>A , CM000668.2:g.32040918C>A	GRCh38
NC_000006.11:g.32008695C>A , CM000668.1:g.32008695C>A	GRCh37
NC_000006.10:g.32116674C>A	NCBI36
NG_007941.2:g.7611C>A
NG_008337.2:g.73457G>T
NG_007941.3:g.7614C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000500.9:c.1272C>A MANE Select	NP_000491.4:p.Cys424Ter
ENST00000644719.2:c.1272C>A MANE Select	ENSP00000496625.1:p.Cys424Ter
NM_000500.7:c.1272C>A	NP_000491.4:p.Cys424Ter
NM_001128590.3:c.1182C>A	NP_001122062.3:p.Cys394Ter
NM_001128590.4:c.1182C>A	NP_001122062.3:p.Cys394Ter
NM_001368143.1:c.867C>A	NP_001355072.1:p.Cys289Ter
NM_001368143.2:c.867C>A	NP_001355072.1:p.Cys289Ter
NM_001368144.1:c.867C>A	NP_001355073.1:p.Cys289Ter
NM_001368144.2:c.867C>A	NP_001355073.1:p.Cys289Ter
ENST00000418967.6:c.1272C>A	ENSP00000408860.2:p.Cys424Ter
ENST00000435122.3:c.1182C>A	ENSP00000415043.2:p.Cys394Ter
ENST00000479074.5:n.1413C>A
ENST00000479730.5:n.1388C>A
ENST00000483041.5:n.1441C>A
ENST00000486063.5:n.1251C>A
XM_011514314.1:c.867C>A	XP_011512616.1:p.Cys289Ter