Canonical Allele Identifier: CA363501718

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32039213-C-G
• MyVariant Identifiers: chr6:g.32006990C>G (hg19) ; chr6:g.32039213C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039213C>G , CM000668.2:g.32039213C>G	GRCh38
NC_000006.11:g.32006990C>G , CM000668.1:g.32006990C>G	GRCh37
NC_000006.10:g.32114969C>G	NCBI36
NG_007941.2:g.5906C>G
NG_008337.2:g.75162G>C
NG_007941.3:g.5909C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.412C>G MANE Select	ENSP00000496625.1:p.Pro138Ala
ENST00000418967.6:c.412C>G	ENSP00000408860.2:p.Pro138Ala
ENST00000435122.3:c.322C>G	ENSP00000415043.2:p.Pro108Ala
ENST00000464325.5:n.333C>G
ENST00000466779.5:c.*104C>G	ENSP00000417321.1:n.*104C>G
ENST00000466879.5:n.463C>G
ENST00000469053.5:c.*104C>G	ENSP00000418104.1:n.*104C>G
ENST00000471671.4:c.412C>G	ENSP00000418561.1:p.Pro138Ala
ENST00000478281.5:c.445C>G	ENSP00000419572.1:p.Pro149Ala
ENST00000479074.5:n.470C>G
ENST00000479730.5:n.567C>G
ENST00000483041.5:n.581C>G
ENST00000486063.5:n.592C>G
ENST00000488465.1:n.420C>G
NM_000500.7:c.412C>G	NP_000491.4:p.Pro138Ala
NM_001128590.3:c.322C>G	NP_001122062.3:p.Pro108Ala
XM_011514314.1:c.7C>G	XP_011512616.1:p.Pro3Ala
NM_000500.9:c.412C>G MANE Select	NP_000491.4:p.Pro138Ala
NM_001368143.1:c.7C>G	NP_001355072.1:p.Pro3Ala
NM_001368144.1:c.7C>G	NP_001355073.1:p.Pro3Ala
NM_001128590.4:c.322C>G	NP_001122062.3:p.Pro108Ala
NM_001368143.2:c.7C>G	NP_001355072.1:p.Pro3Ala
NM_001368144.2:c.7C>G	NP_001355073.1:p.Pro3Ala