Canonical Allele Identifier: CA363511489

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32008541C>G (hg19) ; chr6:g.32040764C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040764C>G , CM000668.2:g.32040764C>G	GRCh38
NC_000006.11:g.32008541C>G , CM000668.1:g.32008541C>G	GRCh37
NC_000006.10:g.32116520C>G	NCBI36
NG_007941.2:g.7457C>G
NG_008337.2:g.73611G>C
NG_007941.3:g.7460C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.1215C>G MANE Select	ENSP00000496625.1:p.Phe405Leu
ENST00000418967.6:c.1215C>G	ENSP00000408860.2:p.Phe405Leu
ENST00000435122.3:c.1125C>G	ENSP00000415043.2:p.Phe375Leu
ENST00000479074.5:n.1356C>G
ENST00000479730.5:n.1331C>G
ENST00000483041.5:n.1384C>G
ENST00000486063.5:n.1194C>G
NM_000500.7:c.1215C>G	NP_000491.4:p.Phe405Leu
NM_001128590.3:c.1125C>G	NP_001122062.3:p.Phe375Leu
XM_011514314.1:c.810C>G	XP_011512616.1:p.Phe270Leu
NM_000500.9:c.1215C>G MANE Select	NP_000491.4:p.Phe405Leu
NM_001368143.1:c.810C>G	NP_001355072.1:p.Phe270Leu
NM_001368144.1:c.810C>G	NP_001355073.1:p.Phe270Leu
NM_001128590.4:c.1125C>G	NP_001122062.3:p.Phe375Leu
NM_001368143.2:c.810C>G	NP_001355072.1:p.Phe270Leu
NM_001368144.2:c.810C>G	NP_001355073.1:p.Phe270Leu