Canonical Allele Identifier: CA363503759

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32039589-T-C
• MyVariant Identifiers: chr6:g.32007366T>C (hg19) ; chr6:g.32039589T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039589T>C , CM000668.2:g.32039589T>C	GRCh38
NC_000006.11:g.32007366T>C , CM000668.1:g.32007366T>C	GRCh37
NC_000006.10:g.32115345T>C	NCBI36
NG_007941.2:g.6282T>C
NG_008337.2:g.74786A>G
NG_007941.3:g.6285T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.593T>C MANE Select	ENSP00000496625.1:p.Val198Ala
ENST00000418967.6:c.593T>C	ENSP00000408860.2:p.Val198Ala
ENST00000435122.3:c.503T>C	ENSP00000415043.2:p.Val168Ala
ENST00000462278.1:n.181T>C
ENST00000464325.5:n.514T>C
ENST00000466779.5:c.*285T>C	ENSP00000417321.1:n.*285T>C
ENST00000466879.5:n.644T>C
ENST00000469053.5:c.*285T>C	ENSP00000418104.1:n.*285T>C
ENST00000471671.4:c.554T>C	ENSP00000418561.1:p.Val185Ala
ENST00000479074.5:n.651T>C
ENST00000479730.5:n.709T>C
ENST00000483041.5:n.762T>C
ENST00000486063.5:n.773T>C
NM_000500.7:c.593T>C	NP_000491.4:p.Val198Ala
NM_001128590.3:c.503T>C	NP_001122062.3:p.Val168Ala
XM_011514314.1:c.188T>C	XP_011512616.1:p.Val63Ala
NM_000500.9:c.593T>C MANE Select	NP_000491.4:p.Val198Ala
NM_001368143.1:c.188T>C	NP_001355072.1:p.Val63Ala
NM_001368144.1:c.188T>C	NP_001355073.1:p.Val63Ala
NM_001128590.4:c.503T>C	NP_001122062.3:p.Val168Ala
NM_001368143.2:c.188T>C	NP_001355072.1:p.Val63Ala
NM_001368144.2:c.188T>C	NP_001355073.1:p.Val63Ala