Canonical Allele Identifier: CA363511798

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32008673C>A (hg19) ; chr6:g.32040896C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040896C>A , CM000668.2:g.32040896C>A	GRCh38
NC_000006.11:g.32008673C>A , CM000668.1:g.32008673C>A	GRCh37
NC_000006.10:g.32116652C>A	NCBI36
NG_007941.2:g.7589C>A
NG_008337.2:g.73479G>T
NG_007941.3:g.7592C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1250C>A MANE Select	ENSP00000496625.1:p.Ser417Tyr
ENST00000418967.6:c.1250C>A	ENSP00000408860.2:p.Ser417Tyr
ENST00000435122.3:c.1160C>A	ENSP00000415043.2:p.Ser387Tyr
ENST00000479074.5:n.1391C>A
ENST00000479730.5:n.1366C>A
ENST00000483041.5:n.1419C>A
ENST00000486063.5:n.1229C>A
NM_000500.7:c.1250C>A	NP_000491.4:p.Ser417Tyr
NM_001128590.3:c.1160C>A	NP_001122062.3:p.Ser387Tyr
XM_011514314.1:c.845C>A	XP_011512616.1:p.Ser282Tyr
NM_000500.9:c.1250C>A MANE Select	NP_000491.4:p.Ser417Tyr
NM_001368143.1:c.845C>A	NP_001355072.1:p.Ser282Tyr
NM_001368144.1:c.845C>A	NP_001355073.1:p.Ser282Tyr
NM_001128590.4:c.1160C>A	NP_001122062.3:p.Ser387Tyr
NM_001368143.2:c.845C>A	NP_001355072.1:p.Ser282Tyr
NM_001368144.2:c.845C>A	NP_001355073.1:p.Ser282Tyr