Canonical Allele Identifier: CA449728611

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1420838971
• gnomAD v4: 6-32039113-C-T
• MyVariant Identifiers: chr6:g.32006890C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039113C>T , CM000668.2:g.32039113C>T	GRCh38
NC_000006.11:g.32006890C>T , CM000668.1:g.32006890C>T	GRCh37
NC_000006.10:g.32114869C>T	NCBI36
NG_007941.2:g.5806C>T
NG_007941.3:g.5809C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.312C>T MANE Select	ENSP00000496625.1:p.Asn104=
ENST00000418967.6:c.312C>T	ENSP00000408860.2:p.Asn104=
ENST00000435122.3:c.222C>T	ENSP00000415043.2:p.Asn74=
ENST00000464325.5:n.233C>T
ENST00000466779.5:c.*4C>T	ENSP00000417321.1:n.*4C>T
ENST00000466879.5:n.363C>T
ENST00000469053.5:c.*4C>T	ENSP00000418104.1:n.*4C>T
ENST00000471671.4:c.312C>T	ENSP00000418561.1:p.Asn104=
ENST00000478281.5:c.345C>T	ENSP00000419572.1:p.Asn115=
ENST00000479074.5:n.370C>T
ENST00000479730.5:n.467C>T
ENST00000480027.1:n.647C>T
ENST00000483041.5:n.481C>T
ENST00000486063.5:n.492C>T
ENST00000488465.1:n.320C>T
NM_000500.7:c.312C>T	NP_000491.4:p.Asn104=
NM_001128590.3:c.222C>T	NP_001122062.3:p.Asn74=
XM_011514314.1:c.-94C>T	XP_011512616.1:n.-94C>T
NM_000500.9:c.312C>T MANE Select	NP_000491.4:p.Asn104=
NM_001368143.1:c.-94C>T	NP_001355072.1:n.-94C>T
NM_001368144.1:c.-94C>T	NP_001355073.1:n.-94C>T
NM_001128590.4:c.222C>T	NP_001122062.3:p.Asn74=
NM_001368143.2:c.-94C>T	NP_001355072.1:n.-94C>T
NM_001368144.2:c.-94C>T	NP_001355073.1:n.-94C>T