Canonical Allele Identifier: CA449818703

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32039591-T-C
• MyVariant Identifiers: chr6:g.32007368T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039591T>C , CM000668.2:g.32039591T>C	GRCh38
NC_000006.11:g.32007368T>C , CM000668.1:g.32007368T>C	GRCh37
NC_000006.10:g.32115347T>C	NCBI36
NG_007941.2:g.6284T>C
NG_008337.2:g.74784A>G
NG_007941.3:g.6287T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.595T>C MANE Select	ENSP00000496625.1:p.Leu199=
ENST00000418967.6:c.595T>C	ENSP00000408860.2:p.Leu199=
ENST00000435122.3:c.505T>C	ENSP00000415043.2:p.Leu169=
ENST00000462278.1:n.183T>C
ENST00000464325.5:n.516T>C
ENST00000466779.5:c.*287T>C	ENSP00000417321.1:n.*287T>C
ENST00000466879.5:n.646T>C
ENST00000469053.5:c.*287T>C	ENSP00000418104.1:n.*287T>C
ENST00000471671.4:c.556T>C	ENSP00000418561.1:p.Leu186=
ENST00000479074.5:n.653T>C
ENST00000479730.5:n.711T>C
ENST00000483041.5:n.764T>C
ENST00000486063.5:n.775T>C
NM_000500.7:c.595T>C	NP_000491.4:p.Leu199=
NM_001128590.3:c.505T>C	NP_001122062.3:p.Leu169=
XM_011514314.1:c.190T>C	XP_011512616.1:p.Leu64=
NM_000500.9:c.595T>C MANE Select	NP_000491.4:p.Leu199=
NM_001368143.1:c.190T>C	NP_001355072.1:p.Leu64=
NM_001368144.1:c.190T>C	NP_001355073.1:p.Leu64=
NM_001128590.4:c.505T>C	NP_001122062.3:p.Leu169=
NM_001368143.2:c.190T>C	NP_001355072.1:p.Leu64=
NM_001368144.2:c.190T>C	NP_001355073.1:p.Leu64=