Canonical Allele Identifier: CA1087499316

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1444273122
• gnomAD v3: 6-32040812-A-G
• gnomAD v4: 6-32040812-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040812A>G , CM000668.2:g.32040812A>G	GRCh38
NC_000006.11:g.32008589A>G , CM000668.1:g.32008589A>G	GRCh37
NC_000006.10:g.32116568A>G	NCBI36
NG_007941.2:g.7505A>G
NG_008337.2:g.73563T>C
NG_007941.3:g.7508A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1222+41A>G MANE Select	ENSP00000496625.1:n.1222+41A>G
ENST00000418967.6:c.1222+41A>G	ENSP00000408860.2:n.1222+41A>G
ENST00000435122.3:c.1132+41A>G	ENSP00000415043.2:n.1132+41A>G
ENST00000479074.5:n.1363+41A>G
ENST00000479730.5:n.1338+41A>G
ENST00000483041.5:n.1391+41A>G
ENST00000486063.5:n.1201+41A>G
NM_000500.7:c.1222+41A>G	NP_000491.4:n.1222+41A>G
NM_001128590.3:c.1132+41A>G	NP_001122062.3:n.1132+41A>G
XM_011514314.1:c.817+41A>G	XP_011512616.1:n.817+41A>G
NM_000500.9:c.1222+41A>G MANE Select	NP_000491.4:n.1222+41A>G
NM_001368143.1:c.817+41A>G	NP_001355072.1:n.817+41A>G
NM_001368144.1:c.817+41A>G	NP_001355073.1:n.817+41A>G
NM_001128590.4:c.1132+41A>G	NP_001122062.3:n.1132+41A>G
NM_001368143.2:c.817+41A>G	NP_001355072.1:n.817+41A>G
NM_001368144.2:c.817+41A>G	NP_001355073.1:n.817+41A>G