Canonical Allele Identifier: CA363501224

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32039171-A-C
• MyVariant Identifiers: chr6:g.32006948A>C (hg19) ; chr6:g.32039171A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039171A>C , CM000668.2:g.32039171A>C	GRCh38
NC_000006.11:g.32006948A>C , CM000668.1:g.32006948A>C	GRCh37
NC_000006.10:g.32114927A>C	NCBI36
NG_007941.2:g.5864A>C
NG_008337.2:g.75204T>G
NG_007941.3:g.5867A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.370A>C MANE Select	ENSP00000496625.1:p.Thr124Pro
ENST00000418967.6:c.370A>C	ENSP00000408860.2:p.Thr124Pro
ENST00000435122.3:c.280A>C	ENSP00000415043.2:p.Thr94Pro
ENST00000464325.5:n.291A>C
ENST00000466779.5:c.*62A>C	ENSP00000417321.1:n.*62A>C
ENST00000466879.5:n.421A>C
ENST00000469053.5:c.*62A>C	ENSP00000418104.1:n.*62A>C
ENST00000471671.4:c.370A>C	ENSP00000418561.1:p.Thr124Pro
ENST00000478281.5:c.403A>C	ENSP00000419572.1:p.Thr135Pro
ENST00000479074.5:n.428A>C
ENST00000479730.5:n.525A>C
ENST00000483041.5:n.539A>C
ENST00000486063.5:n.550A>C
ENST00000488465.1:n.378A>C
NM_000500.7:c.370A>C	NP_000491.4:p.Thr124Pro
NM_001128590.3:c.280A>C	NP_001122062.3:p.Thr94Pro
XM_011514314.1:c.-36A>C	XP_011512616.1:n.-36A>C
NM_000500.9:c.370A>C MANE Select	NP_000491.4:p.Thr124Pro
NM_001368143.1:c.-36A>C	NP_001355072.1:n.-36A>C
NM_001368144.1:c.-36A>C	NP_001355073.1:n.-36A>C
NM_001128590.4:c.280A>C	NP_001122062.3:p.Thr94Pro
NM_001368143.2:c.-36A>C	NP_001355072.1:n.-36A>C
NM_001368144.2:c.-36A>C	NP_001355073.1:n.-36A>C