Canonical Allele Identifier: CA363511197

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040584G>A , CM000668.2:g.32040584G>A	GRCh38
NC_000006.11:g.32008361G>A , CM000668.1:g.32008361G>A	GRCh37
NC_000006.10:g.32116340G>A	NCBI36
NG_007941.2:g.7277G>A
NG_008337.2:g.73791C>T
NG_007941.3:g.7280G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000500.9:c.1118G>A MANE Select	NP_000491.4:p.Ser373Asn
ENST00000644719.2:c.1118G>A MANE Select	ENSP00000496625.1:p.Ser373Asn
NM_000500.7:c.1118G>A	NP_000491.4:p.Ser373Asn
NM_001128590.3:c.1028G>A	NP_001122062.3:p.Ser343Asn
NM_001128590.4:c.1028G>A	NP_001122062.3:p.Ser343Asn
NM_001368143.1:c.713G>A	NP_001355072.1:p.Ser238Asn
NM_001368143.2:c.713G>A	NP_001355072.1:p.Ser238Asn
NM_001368144.1:c.713G>A	NP_001355073.1:p.Ser238Asn
NM_001368144.2:c.713G>A	NP_001355073.1:p.Ser238Asn
ENST00000418967.6:c.1118G>A	ENSP00000408860.2:p.Ser373Asn
ENST00000435122.3:c.1028G>A	ENSP00000415043.2:p.Ser343Asn
ENST00000479074.5:n.1176G>A
ENST00000479730.5:n.1234G>A
ENST00000483041.5:n.1287G>A
ENST00000486063.5:n.1097G>A
XM_011514314.1:c.713G>A	XP_011512616.1:p.Ser238Asn