Canonical Allele Identifier: CA3732730

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32041093C>T , CM000668.2:g.32041093C>T	GRCh38
NC_000006.11:g.32008870C>T , CM000668.1:g.32008870C>T	GRCh37
NC_000006.10:g.32116849C>T	NCBI36
NG_007941.2:g.7786C>T
NG_008337.2:g.73282G>A
NG_007941.3:g.7789C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000500.9:c.1447C>T MANE Select	NP_000491.4:p.Pro483Ser
ENST00000644719.2:c.1447C>T MANE Select	ENSP00000496625.1:p.Pro483Ser
NM_000500.7:c.1447C>T	NP_000491.4:p.Pro483Ser
NM_001128590.3:c.1357C>T	NP_001122062.3:p.Pro453Ser
NM_001128590.4:c.1357C>T	NP_001122062.3:p.Pro453Ser
NM_001368143.1:c.1042C>T	NP_001355072.1:p.Pro348Ser
NM_001368143.2:c.1042C>T	NP_001355072.1:p.Pro348Ser
NM_001368144.1:c.1042C>T	NP_001355073.1:p.Pro348Ser
NM_001368144.2:c.1042C>T	NP_001355073.1:p.Pro348Ser
ENST00000418967.6:c.1447C>T	ENSP00000408860.2:p.Pro483Ser
ENST00000435122.3:c.1357C>T	ENSP00000415043.2:p.Pro453Ser
ENST00000479074.5:n.1588C>T
ENST00000479730.5:n.1563C>T
ENST00000483041.5:n.1616C>T
ENST00000486063.5:n.1426C>T
XM_011514314.1:c.1042C>T	XP_011512616.1:p.Pro348Ser