Canonical Allele Identifier: CA363504051

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32039613-C-T
• MyVariant Identifiers: chr6:g.32007390C>T (hg19) ; chr6:g.32039613C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039613C>T , CM000668.2:g.32039613C>T	GRCh38
NC_000006.11:g.32007390C>T , CM000668.1:g.32007390C>T	GRCh37
NC_000006.10:g.32115369C>T	NCBI36
NG_007941.2:g.6306C>T
NG_008337.2:g.74762G>A
NG_007941.3:g.6309C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.617C>T MANE Select	ENSP00000496625.1:p.Ser206Phe
ENST00000418967.6:c.617C>T	ENSP00000408860.2:p.Ser206Phe
ENST00000435122.3:c.527C>T	ENSP00000415043.2:p.Ser176Phe
ENST00000462278.1:n.205C>T
ENST00000464325.5:n.538C>T
ENST00000466779.5:c.*309C>T	ENSP00000417321.1:n.*309C>T
ENST00000466879.5:n.668C>T
ENST00000469053.5:c.*309C>T	ENSP00000418104.1:n.*309C>T
ENST00000479074.5:n.675C>T
ENST00000479730.5:n.733C>T
ENST00000483041.5:n.786C>T
ENST00000486063.5:n.797C>T
NM_000500.7:c.617C>T	NP_000491.4:p.Ser206Phe
NM_001128590.3:c.527C>T	NP_001122062.3:p.Ser176Phe
XM_011514314.1:c.212C>T	XP_011512616.1:p.Ser71Phe
NM_000500.9:c.617C>T MANE Select	NP_000491.4:p.Ser206Phe
NM_001368143.1:c.212C>T	NP_001355072.1:p.Ser71Phe
NM_001368144.1:c.212C>T	NP_001355073.1:p.Ser71Phe
NM_001128590.4:c.527C>T	NP_001122062.3:p.Ser176Phe
NM_001368143.2:c.212C>T	NP_001355072.1:p.Ser71Phe
NM_001368144.2:c.212C>T	NP_001355073.1:p.Ser71Phe