Canonical Allele Identifier: CA363512451

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1350737171
• gnomAD v3: 6-32041028-C-T
• gnomAD v4: 6-32041028-C-T
• MyVariant Identifiers: chr6:g.32008805C>T (hg19) ; chr6:g.32041028C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32041028C>T , CM000668.2:g.32041028C>T	GRCh38
NC_000006.11:g.32008805C>T , CM000668.1:g.32008805C>T	GRCh37
NC_000006.10:g.32116784C>T	NCBI36
NG_007941.2:g.7721C>T
NG_008337.2:g.73347G>A
NG_007941.3:g.7724C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1382C>T MANE Select	ENSP00000496625.1:p.Ser461Phe
ENST00000418967.6:c.1382C>T	ENSP00000408860.2:p.Ser461Phe
ENST00000435122.3:c.1292C>T	ENSP00000415043.2:p.Ser431Phe
ENST00000479074.5:n.1523C>T
ENST00000479730.5:n.1498C>T
ENST00000483041.5:n.1551C>T
ENST00000486063.5:n.1361C>T
NM_000500.7:c.1382C>T	NP_000491.4:p.Ser461Phe
NM_001128590.3:c.1292C>T	NP_001122062.3:p.Ser431Phe
XM_011514314.1:c.977C>T	XP_011512616.1:p.Ser326Phe
NM_000500.9:c.1382C>T MANE Select	NP_000491.4:p.Ser461Phe
NM_001368143.1:c.977C>T	NP_001355072.1:p.Ser326Phe
NM_001368144.1:c.977C>T	NP_001355073.1:p.Ser326Phe
NM_001128590.4:c.1292C>T	NP_001122062.3:p.Ser431Phe
NM_001368143.2:c.977C>T	NP_001355072.1:p.Ser326Phe
NM_001368144.2:c.977C>T	NP_001355073.1:p.Ser326Phe