Canonical Allele Identifier: CA363503122

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32007214A>G (hg19) ; chr6:g.32039437A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039437A>G , CM000668.2:g.32039437A>G	GRCh38
NC_000006.11:g.32007214A>G , CM000668.1:g.32007214A>G	GRCh37
NC_000006.10:g.32115193A>G	NCBI36
NG_007941.2:g.6130A>G
NG_008337.2:g.74938T>C
NG_007941.3:g.6133A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.529A>G MANE Select	ENSP00000496625.1:p.Thr177Ala
ENST00000418967.6:c.529A>G	ENSP00000408860.2:p.Thr177Ala
ENST00000435122.3:c.439A>G	ENSP00000415043.2:p.Thr147Ala
ENST00000462278.1:n.117A>G
ENST00000464325.5:n.450A>G
ENST00000466779.5:c.*221A>G	ENSP00000417321.1:n.*221A>G
ENST00000466879.5:n.580A>G
ENST00000469053.5:c.*221A>G	ENSP00000418104.1:n.*221A>G
ENST00000471671.4:c.529A>G	ENSP00000418561.1:p.Thr177Ala
ENST00000479074.5:n.587A>G
ENST00000479730.5:n.684A>G
ENST00000483041.5:n.698A>G
ENST00000486063.5:n.709A>G
ENST00000488465.1:n.537A>G
NM_000500.7:c.529A>G	NP_000491.4:p.Thr177Ala
NM_001128590.3:c.439A>G	NP_001122062.3:p.Thr147Ala
XM_011514314.1:c.124A>G	XP_011512616.1:p.Thr42Ala
NM_000500.9:c.529A>G MANE Select	NP_000491.4:p.Thr177Ala
NM_001368143.1:c.124A>G	NP_001355072.1:p.Thr42Ala
NM_001368144.1:c.124A>G	NP_001355073.1:p.Thr42Ala
NM_001128590.4:c.439A>G	NP_001122062.3:p.Thr147Ala
NM_001368143.2:c.124A>G	NP_001355072.1:p.Thr42Ala
NM_001368144.2:c.124A>G	NP_001355073.1:p.Thr42Ala