Canonical Allele Identifier: CA363505983

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32007810A>C (hg19) ; chr6:g.32040033A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040033A>C , CM000668.2:g.32040033A>C	GRCh38
NC_000006.11:g.32007810A>C , CM000668.1:g.32007810A>C	GRCh37
NC_000006.10:g.32115789A>C	NCBI36
NG_007941.2:g.6726A>C
NG_008337.2:g.74342T>G
NG_007941.3:g.6729A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.767A>C MANE Select	ENSP00000496625.1:p.Asp256Ala
ENST00000418967.6:c.767A>C	ENSP00000408860.2:p.Asp256Ala
ENST00000435122.3:c.677A>C	ENSP00000415043.2:p.Asp226Ala
ENST00000479074.5:n.825A>C
ENST00000479730.5:n.883A>C
ENST00000483041.5:n.936A>C
ENST00000486063.5:n.918+198A>C
NM_000500.7:c.767A>C	NP_000491.4:p.Asp256Ala
NM_001128590.3:c.677A>C	NP_001122062.3:p.Asp226Ala
XM_011514314.1:c.362A>C	XP_011512616.1:p.Asp121Ala
NM_000500.9:c.767A>C MANE Select	NP_000491.4:p.Asp256Ala
NM_001368143.1:c.362A>C	NP_001355072.1:p.Asp121Ala
NM_001368144.1:c.362A>C	NP_001355073.1:p.Asp121Ala
NM_001128590.4:c.677A>C	NP_001122062.3:p.Asp226Ala
NM_001368143.2:c.362A>C	NP_001355072.1:p.Asp121Ala
NM_001368144.2:c.362A>C	NP_001355073.1:p.Asp121Ala