Canonical Allele Identifier: CA449729414

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32040010-C-T
• MyVariant Identifiers: chr6:g.32007787C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040010C>T , CM000668.2:g.32040010C>T	GRCh38
NC_000006.11:g.32007787C>T , CM000668.1:g.32007787C>T	GRCh37
NC_000006.10:g.32115766C>T	NCBI36
NG_007941.2:g.6703C>T
NG_008337.2:g.74365G>A
NG_007941.3:g.6706C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.744C>T MANE Select	ENSP00000496625.1:p.Ser248=
ENST00000418967.6:c.744C>T	ENSP00000408860.2:p.Ser248=
ENST00000435122.3:c.654C>T	ENSP00000415043.2:p.Ser218=
ENST00000479074.5:n.802C>T
ENST00000479730.5:n.860C>T
ENST00000483041.5:n.913C>T
ENST00000486063.5:n.918+175C>T
NM_000500.7:c.744C>T	NP_000491.4:p.Ser248=
NM_001128590.3:c.654C>T	NP_001122062.3:p.Ser218=
XM_011514314.1:c.339C>T	XP_011512616.1:p.Ser113=
NM_000500.9:c.744C>T MANE Select	NP_000491.4:p.Ser248=
NM_001368143.1:c.339C>T	NP_001355072.1:p.Ser113=
NM_001368144.1:c.339C>T	NP_001355073.1:p.Ser113=
NM_001128590.4:c.654C>T	NP_001122062.3:p.Ser218=
NM_001368143.2:c.339C>T	NP_001355072.1:p.Ser113=
NM_001368144.2:c.339C>T	NP_001355073.1:p.Ser113=