Canonical Allele Identifier: CA449818997

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32040969-G-T
• MyVariant Identifiers: chr6:g.32008746G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040969G>T , CM000668.2:g.32040969G>T	GRCh38
NC_000006.11:g.32008746G>T , CM000668.1:g.32008746G>T	GRCh37
NC_000006.10:g.32116725G>T	NCBI36
NG_007941.2:g.7662G>T
NG_008337.2:g.73406C>A
NG_007941.3:g.7665G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1323G>T MANE Select	ENSP00000496625.1:p.Val441=
ENST00000418967.6:c.1323G>T	ENSP00000408860.2:p.Val441=
ENST00000435122.3:c.1233G>T	ENSP00000415043.2:p.Val411=
ENST00000479074.5:n.1464G>T
ENST00000479730.5:n.1439G>T
ENST00000483041.5:n.1492G>T
ENST00000486063.5:n.1302G>T
NM_000500.7:c.1323G>T	NP_000491.4:p.Val441=
NM_001128590.3:c.1233G>T	NP_001122062.3:p.Val411=
XM_011514314.1:c.918G>T	XP_011512616.1:p.Val306=
NM_000500.9:c.1323G>T MANE Select	NP_000491.4:p.Val441=
NM_001368143.1:c.918G>T	NP_001355072.1:p.Val306=
NM_001368144.1:c.918G>T	NP_001355073.1:p.Val306=
NM_001128590.4:c.1233G>T	NP_001122062.3:p.Val411=
NM_001368143.2:c.918G>T	NP_001355072.1:p.Val306=
NM_001368144.2:c.918G>T	NP_001355073.1:p.Val306=