Canonical Allele Identifier: CA363512583

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32041051A>G , CM000668.2:g.32041051A>G	GRCh38
NC_000006.11:g.32008828A>G , CM000668.1:g.32008828A>G	GRCh37
NC_000006.10:g.32116807A>G	NCBI36
NG_007941.2:g.7744A>G
NG_008337.2:g.73324T>C
NG_007941.3:g.7747A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000500.9:c.1405A>G MANE Select	NP_000491.4:p.Ser469Gly
ENST00000644719.2:c.1405A>G MANE Select	ENSP00000496625.1:p.Ser469Gly
NM_000500.7:c.1405A>G	NP_000491.4:p.Ser469Gly
NM_001128590.3:c.1315A>G	NP_001122062.3:p.Ser439Gly
NM_001128590.4:c.1315A>G	NP_001122062.3:p.Ser439Gly
NM_001368143.1:c.1000A>G	NP_001355072.1:p.Ser334Gly
NM_001368143.2:c.1000A>G	NP_001355072.1:p.Ser334Gly
NM_001368144.1:c.1000A>G	NP_001355073.1:p.Ser334Gly
NM_001368144.2:c.1000A>G	NP_001355073.1:p.Ser334Gly
ENST00000418967.6:c.1405A>G	ENSP00000408860.2:p.Ser469Gly
ENST00000435122.3:c.1315A>G	ENSP00000415043.2:p.Ser439Gly
ENST00000479074.5:n.1546A>G
ENST00000479730.5:n.1521A>G
ENST00000483041.5:n.1574A>G
ENST00000486063.5:n.1384A>G
XM_011514314.1:c.1000A>G	XP_011512616.1:p.Ser334Gly