Canonical Allele Identifier: CA363512263

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32008763T>A (hg19) ; chr6:g.32040986T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040986T>A , CM000668.2:g.32040986T>A	GRCh38
NC_000006.11:g.32008763T>A , CM000668.1:g.32008763T>A	GRCh37
NC_000006.10:g.32116742T>A	NCBI36
NG_007941.2:g.7679T>A
NG_008337.2:g.73389A>T
NG_007941.3:g.7682T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1340T>A MANE Select	ENSP00000496625.1:p.Leu447Gln
ENST00000418967.6:c.1340T>A	ENSP00000408860.2:p.Leu447Gln
ENST00000435122.3:c.1250T>A	ENSP00000415043.2:p.Leu417Gln
ENST00000479074.5:n.1481T>A
ENST00000479730.5:n.1456T>A
ENST00000483041.5:n.1509T>A
ENST00000486063.5:n.1319T>A
NM_000500.7:c.1340T>A	NP_000491.4:p.Leu447Gln
NM_001128590.3:c.1250T>A	NP_001122062.3:p.Leu417Gln
XM_011514314.1:c.935T>A	XP_011512616.1:p.Leu312Gln
NM_000500.9:c.1340T>A MANE Select	NP_000491.4:p.Leu447Gln
NM_001368143.1:c.935T>A	NP_001355072.1:p.Leu312Gln
NM_001368144.1:c.935T>A	NP_001355073.1:p.Leu312Gln
NM_001128590.4:c.1250T>A	NP_001122062.3:p.Leu417Gln
NM_001368143.2:c.935T>A	NP_001355072.1:p.Leu312Gln
NM_001368144.2:c.935T>A	NP_001355073.1:p.Leu312Gln