Canonical Allele Identifier: CA449819110

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1247818638
• gnomAD v2: 6-32008806-C-T
• gnomAD v4: 6-32041029-C-T
• MyVariant Identifiers: chr6:g.32008806C>T (hg19) ; chr6:g.32041029C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32041029C>T , CM000668.2:g.32041029C>T	GRCh38
NC_000006.11:g.32008806C>T , CM000668.1:g.32008806C>T	GRCh37
NC_000006.10:g.32116785C>T	NCBI36
NG_007941.2:g.7722C>T
NG_008337.2:g.73346G>A
NG_007941.3:g.7725C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1383C>T MANE Select	ENSP00000496625.1:p.Ser461=
ENST00000418967.6:c.1383C>T	ENSP00000408860.2:p.Ser461=
ENST00000435122.3:c.1293C>T	ENSP00000415043.2:p.Ser431=
ENST00000479074.5:n.1524C>T
ENST00000479730.5:n.1499C>T
ENST00000483041.5:n.1552C>T
ENST00000486063.5:n.1362C>T
NM_000500.7:c.1383C>T	NP_000491.4:p.Ser461=
NM_001128590.3:c.1293C>T	NP_001122062.3:p.Ser431=
XM_011514314.1:c.978C>T	XP_011512616.1:p.Ser326=
NM_000500.9:c.1383C>T MANE Select	NP_000491.4:p.Ser461=
NM_001368143.1:c.978C>T	NP_001355072.1:p.Ser326=
NM_001368144.1:c.978C>T	NP_001355073.1:p.Ser326=
NM_001128590.4:c.1293C>T	NP_001122062.3:p.Ser431=
NM_001368143.2:c.978C>T	NP_001355072.1:p.Ser326=
NM_001368144.2:c.978C>T	NP_001355073.1:p.Ser326=