Canonical Allele Identifier: CA449818520

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1775994272
• MyVariant Identifiers: chr6:g.32006311T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038534T>C , CM000668.2:g.32038534T>C	GRCh38
NC_000006.11:g.32006311T>C , CM000668.1:g.32006311T>C	GRCh37
NC_000006.10:g.32114290T>C	NCBI36
NG_007941.2:g.5227T>C
NG_007941.3:g.5230T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.112T>C MANE Select	ENSP00000496625.1:p.Leu38=
ENST00000418967.6:c.112T>C	ENSP00000408860.2:p.Leu38=
ENST00000435122.3:c.112T>C	ENSP00000415043.2:p.Leu38=
ENST00000466779.5:c.112T>C	ENSP00000417321.1:p.Leu38=
ENST00000469053.5:c.112T>C	ENSP00000418104.1:p.Leu38=
ENST00000471671.4:c.112T>C	ENSP00000418561.1:p.Leu38=
ENST00000478281.5:c.112T>C	ENSP00000419572.1:p.Leu38=
ENST00000479074.5:n.170T>C
ENST00000479730.5:n.170T>C
ENST00000480027.1:n.165T>C
ENST00000483041.5:n.165T>C
ENST00000486063.5:n.195T>C
ENST00000488465.1:n.120T>C
NM_000500.7:c.112T>C	NP_000491.4:p.Leu38=
NM_001128590.3:c.112T>C	NP_001122062.3:p.Leu38=
XM_011514314.1:c.-313T>C	XP_011512616.1:n.-313T>C
NM_000500.9:c.112T>C MANE Select	NP_000491.4:p.Leu38=
NM_001368143.1:c.-313T>C	NP_001355072.1:n.-313T>C
NM_001368144.1:c.-223T>C	NP_001355073.1:n.-223T>C
NM_001128590.4:c.112T>C	NP_001122062.3:p.Leu38=
NM_001368143.2:c.-313T>C	NP_001355072.1:n.-313T>C
NM_001368144.2:c.-223T>C	NP_001355073.1:n.-223T>C