Canonical Allele Identifier: CA363504756

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32039771-G-T
• MyVariant Identifiers: chr6:g.32007548G>T (hg19) ; chr6:g.32039771G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039771G>T , CM000668.2:g.32039771G>T	GRCh38
NC_000006.11:g.32007548G>T , CM000668.1:g.32007548G>T	GRCh37
NC_000006.10:g.32115527G>T	NCBI36
NG_007941.2:g.6464G>T
NG_008337.2:g.74604C>A
NG_007941.3:g.6467G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.674G>T MANE Select	ENSP00000496625.1:p.Arg225Leu
ENST00000418967.6:c.674G>T	ENSP00000408860.2:p.Arg225Leu
ENST00000435122.3:c.584G>T	ENSP00000415043.2:p.Arg195Leu
ENST00000462278.1:n.363G>T
ENST00000466779.5:c.*366G>T	ENSP00000417321.1:n.*366G>T
ENST00000466879.5:n.725G>T
ENST00000479074.5:n.732G>T
ENST00000479730.5:n.790G>T
ENST00000483041.5:n.843G>T
ENST00000486063.5:n.854G>T
NM_000500.7:c.674G>T	NP_000491.4:p.Arg225Leu
NM_001128590.3:c.584G>T	NP_001122062.3:p.Arg195Leu
XM_011514314.1:c.269G>T	XP_011512616.1:p.Arg90Leu
NM_000500.9:c.674G>T MANE Select	NP_000491.4:p.Arg225Leu
NM_001368143.1:c.269G>T	NP_001355072.1:p.Arg90Leu
NM_001368144.1:c.269G>T	NP_001355073.1:p.Arg90Leu
NM_001128590.4:c.584G>T	NP_001122062.3:p.Arg195Leu
NM_001368143.2:c.269G>T	NP_001355072.1:p.Arg90Leu
NM_001368144.2:c.269G>T	NP_001355073.1:p.Arg90Leu