Canonical Allele Identifier: CA363511273

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32040696-A-G
• MyVariant Identifiers: chr6:g.32008473A>G (hg19) ; chr6:g.32040696A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040696A>G , CM000668.2:g.32040696A>G	GRCh38
NC_000006.11:g.32008473A>G , CM000668.1:g.32008473A>G	GRCh37
NC_000006.10:g.32116452A>G	NCBI36
NG_007941.2:g.7389A>G
NG_008337.2:g.73679T>C
NG_007941.3:g.7392A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.1147A>G MANE Select	ENSP00000496625.1:p.Thr383Ala
ENST00000418967.6:c.1147A>G	ENSP00000408860.2:p.Thr383Ala
ENST00000435122.3:c.1057A>G	ENSP00000415043.2:p.Thr353Ala
ENST00000479074.5:n.1288A>G
ENST00000479730.5:n.1263A>G
ENST00000483041.5:n.1316A>G
ENST00000486063.5:n.1126A>G
NM_000500.7:c.1147A>G	NP_000491.4:p.Thr383Ala
NM_001128590.3:c.1057A>G	NP_001122062.3:p.Thr353Ala
XM_011514314.1:c.742A>G	XP_011512616.1:p.Thr248Ala
NM_000500.9:c.1147A>G MANE Select	NP_000491.4:p.Thr383Ala
NM_001368143.1:c.742A>G	NP_001355072.1:p.Thr248Ala
NM_001368144.1:c.742A>G	NP_001355073.1:p.Thr248Ala
NM_001128590.4:c.1057A>G	NP_001122062.3:p.Thr353Ala
NM_001368143.2:c.742A>G	NP_001355072.1:p.Thr248Ala
NM_001368144.2:c.742A>G	NP_001355073.1:p.Thr248Ala